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Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia. Clin. Dysmorphol. (IF 0.7) Pub Date : 2024-02-28 Jeannette Goh, Heming Wei, Angeline H M Lai, Benjamin Chang, Shazia Khan, Yamon Syn, Saumya S Jamuar, Ene-Choo Tan
Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (PAX6), which codes for a transcription factor that regulates eye development. Four patients from
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The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or "soft" marker on ultrasonographic scanning. Clin. Dysmorphol. (IF 0.7) Pub Date : 2024-02-16 Bojana Petrovic, Srboljub Milicevic, Dragisa Sljivancanin, Ljiljana Zdelar Stojanovic, Jelena Stamenkovic, Milka Grk, Marija Dusanovic Pjevic
Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic markers, including major anomalies and "soft" markers, indicating potential chromosomal issues. A crucial consideration arises when a single fetal anomaly is detected, raising the question of whether karyotyping is warranted, given the associated procedural risks. Our objective was to establish correlations between single fetal
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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population. Clin. Dysmorphol. (IF 0.7) Pub Date : 2024-02-16 AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana, Hanan AlQudairy, Rozeena Huma, Hadeel Binomar, Salma Majid Wakil, Mohammad Alowain, Dilek Colak, Namik Kaya, Moeenaldeen D AlSayed
Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel
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Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-11-30 Lucy Scrimshaw, Kathleen Gorman, Sahar Mansour, Vijeya Ganesan, Ataf Sabir
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant sclerosing osteodysplasia, due to AMER1 pathogenic variants. Characteristic features include craniofacial sclerosis and long-bone metaphyseal striations. Moyamoya disease (a type of progressive cerebral vasculopathy) and other types of cerebral vascular disease are not currently clearly associated with OSCS (except for two
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Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-11-30 Toni Kasole Lubala, Tony Kayembe-Kitenge, Nina Lubala, Gray Kanteng, Oscar Luboya, Randi Hagerman, Prosper Lukusa-Tshilobo, Aimé Lumaka
This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14-38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive
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Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-11-30 Mangalore S Shravya, Katta M Girisha, Shalini S Nayak
Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals
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LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-10-13 Vaishnavi Ashok Badiger, Suma Balan, Sumanth Madan, Kishore Sai Gogineni, Hitesh Shah, Dhanya Lakshmi Narayanan
LPIN2-related Majeed syndrome (MIM# 609628) is a rare non-inflammasome autoinflammatory disease, caused due to biallelic variants in LPIN2 (MIM* 605519). To date, only 31 individuals from 18 families have been reported with this rare condition. Exome sequencing was done in two affected individuals from two unrelated families. Additionally, phenotypic, and genotypic information from the literature was
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To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-10-13 Thurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, James Soon Chuan Lim, Christine Bee Keow Ong, Jasmine Chew Yin Goh, Jiin Ying Lim, Fang Kuan Chiou, Saumya Shekhar Jamuar
Argininosuccinate lyase (ASL) deficiency is an autosomal recessive disorder of the urea cycle with a diverse spectrum of clinical presentation that is detectable in newborn screening. We report an 8-year-old girl with ASL deficiency who was detected through newborn screening and was confirmed using biochemical and functional assay. She is compound heterozygous for a likely pathogenic variant NM_000048
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Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-09-26 Anna Bertolini, Miriam Rigoldi, Annalia Cianflone, Raffaella Mariani, Alberto Piperno, Francesco Canonico, Graziella Cefalo, Francesca Carubbi, Alessandro Simonati, Maria Letizia Urban, Tommaso Beccari, Rossella Parini
Alpha-mannosidosis (MIM #248500) is an ultra-rare autosomal recessive lysosomal storage disease with multi-system involvement and a wide phenotypic spectrum. Information on long-term outcomes remains poor. We present the long-term outcomes (median, 19 years) of nine patients with alpha-mannosidosis, three females and six males, followed at a single center. The findings of the nine patients were collected
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Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-07-04 Hatice Mutlu, Nursel Elçioğlu, Esra Kiliç
Autosomal recessive otospondylo-mega-epiphyseal dysplasia (OSMEDB) is characterized by short stature with short limbs, dysmorphic facial features, and hearing loss, which is caused by biallelic, loss-of-function, variants in the COL11A2 gene. Geno-phenotypic data from the medical records of eight affected individuals from five unrelated families was abstracted, recorded in an Excel spreadsheet and
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Clinical and molecular study of Egyptian patients with Treacher Collins syndrome. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-07-04 Nagham M Elbagoury, Amira Nabil, Asmaa F Abdel-Aleem, Ahmed Habib, Engy A Ashaat, Wessam E Sharaf-Eldin, Mona L Esswai
Treacher Collins syndrome (TCS) is a rare disorder of craniofacial development following different patterns of inheritance. To date, mutations in four genes (TCOF1, POLR1D, POLR1C, and POLR1B) have been found to cause the condition. The molecular defect remains unidentified in a significant proportion of patients. In the current study, whole exome sequencing including analysis of copy number variants
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Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-06-19 Shivani Mishra, Karthik Vijay Nair, Anju Shukla
Congenital myasthenic syndromes (CMS) are rare, heterogeneous, and often treatable genetic disorders depending on the underlying molecular defect. We performed a detailed clinical evaluation of seven patients from five unrelated families. Exome sequencing was performed on five index patients. Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7)
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The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-04-01 Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela Jones, Violeta Mikštienė, Eglė Preikšaitienė, Louise Thompson, Katrina Tatton-Brown
Potocki–Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and PHF21A variants have previously been associated with a specific disorder that, whilst sharing some features of PSS, has notable differences. This study
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Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-04-01 Bilge Geckinli, Ayberk Turkyilmaz, Ceren Alavanda, Gunes Sager, Esra Arslan Ates, Mehmet Ali Soylemez, Ahmet Arman
Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known
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The dysmorphic phenotype in vascular Ehlers Danlos syndrome Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-01-01 James R. Lyness, Patrick J. Morrison
The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and external dysmorphology. This review charts the paediatric and adult phenotypes of vEDS due primarily to COL3A1 gene variants and the potential recognition of
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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum Clin. Dysmorphol. (IF 0.7) Pub Date : 2023-01-01 Chloe Jade Ashton, Rahat Perveen, Glenda Beaman, Giangiorgio Crisponi, Ariadna González-Del Angel, Gilda Garza-Mayén, Miguel Angel Alcántara-Ortigoza, James O’Sullivan, Jill Clayton-Smith
The 3MC syndromes types 1–3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they
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Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-10-01 Kadri Karaer, Derya Karaer, Zafer Yüksel, Sedat Işikay
Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, and speech impairment. So far, only two families with NEDMAS have been reported. We report the clinical and molecular characteristics of three unrelated
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De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-10-01 Fatma Kurt Colak, Nilnur Eyerci, Naz Guleray Lafci
Background Interstitial deletions of the 11q region are infrequent. Nonrecurrent chromosomal rearrangements are observed with high variability in size and precise breakpoints of the deleted area. Moreover heterogeneous clinical findings are observed in those harboring 11q interstitial deletions. Main clinical features associated with these deletions include mild dysmorphic findings intellectual disability
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“Laurin-Sandrow Syndrome – a review of the literature and classification system” Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-07-01 Cezar Buzea, Nathalie Boulanger
Introduction Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms
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Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-07-01 Mianne Lee, Adrian C.Y. Lui, Christopher C.Y. Mak, Mandy H.Y. Tsang, Jasmine L.F. Fung, K.S. Yeung, Brian Hon Yin Chung
Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a university-affiliated genetics clinic, which attends to territory-wide genetic consultations. All patients with confirmed mosaic diagnoses through reproductive
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Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-07-01 Bahadir M. Samur, Gülsüm Gümüş, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ahmet Okay Cağlayan
Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic
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Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-07-01 Emily Woods, Michael Yates, Farah Kanani, Meena Balasubramanian
We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the familial variant. This patient was homozygous for ARSL NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) familial variant, consistent with a diagnosis of CDPX1. Uniparental
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Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-04-01 Blanca E. Ríos-González, Jessica F. Rodríguez-Ortiz, Anna G. Castro-Martínez, María T. Magaña-Torres, Patricio Barros-Núñez
This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12
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Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-04-01 Amita Moirangthem, Deepti Saxena, Suzena Masih, Arya Shambhavi, Mayank Nilay, Shubha R. Phadke
Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in MTHFR. We report six subjects with MTHFR deficiency who presented with variable neurological phenotypes which could be
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Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype. Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-04-01 Paola Sabrina Buonuomo,Gerarda Mastrogiorgio,Paolo Alfieri,Alessandra Terracciano,Claudia Cesario,Ippolita Rana,Marina Macchiaiolo,Michaela Veronika Gonfiantini,Davide Vecchio,Maria Cristina Digilio,Maria Lisa Dentici,Francesca Cumbo,Antonio Novelli,Andrea Bartuli
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KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-01-01 Dhanya Lakshmi Narayanan, Puneeth H Somashekar, Purvi Majethia, Anju Shukla
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM# 611726) is a rare autosomal recessive condition associated with pathogenic variants in KCTD7, which encodes the BR-C,ttk and bab/pox virus and zinc finger domain-containing KCTD7 protein. We report four individuals from three Indian families presenting with an initial period of normal development, progressive myoclonic
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Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-01-01 Shuqin Xu, Wenqian Zhang, Rui Zhou, Hui Huang, Wei Chen, Wenhao Xiang, Limei Liu, Jieping Song
Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from China. Here, we report clinical and molecular characteristics of two Chinese MCPH5 patients, a 24-year-old woman proband and her brother, a 19-year-old man, from
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Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-01-01 Sharon Ocansey, Debbie Pullen, Patricia Atkinson, Antonia Clarke, Medard Hadonou, Charlene Crosby, John Short, Ian Christopher Lloyd, Damian Smedley, Albanese Assunta, Genomics England Research Consortium, Pratik Shah, Meriel McEntagart
DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease. Examples include Marinesco–Sjogren and Wolcott–Rallison syndromes that share similar clinical
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Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity? Clin. Dysmorphol. (IF 0.7) Pub Date : 2022-01-01 Laura Cazzaniga, Barbara Parma, Lisa Licini, Davide Dalla Rosa, Maurizio Cheli, Angelo Selicorni
We describe the case of a patient with a clinical and molecular diagnosis of Beckwith-Wiedemann Syndrome (BWS) and a clinical, radiologic and histologic diagnosis of colon isolated hypoganglionosis. BWS is a genetic multisystem disorder characterized by generalized and lateralized overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia and predisposition to embryonal tumors (Brioude
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Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-9-5 José Ramón Fernández-Fructuoso, Cristina De la Torre-Sandoval, Madeleine D Harbison, Sandra Chantot-Bastaraud, Karen Temple, Jose Maria Lloreda-Garcia, Maria Olmo-Sanchez, Irene Netchine
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype
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Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-08-26 Kameryn M Butler, Vahid Bahrambeigi, Allie Merrihew, Michael J Friez, Sara S Cathey
Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, hairless posterior scalp nodules, absent or rudimentary nipples, breast aplasia and external ear anomalies. We report a child with clinical
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Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-07-26 Eliza A Phillips, Oana Caluseriu, Kamilla Schlade-Bartusiak, Judy Chernos, D Ross McLeod, Mary Ann Thomas
Autosomal ring chromosomes are rare cytogenetic findings that arise from breakage and fusion of the chromosome ends. Rings are mitotically unstable, usually sporadic and associated with a 'ring syndrome', characterized by a variable phenotype: growth retardation, no significant dysmorphisms and normal to moderately disabled intelligence. We describe the clinical features and molecular characterization
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A proximal 300kb deletion further defining critical regions in 4q25 syndrome. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-07-01 Mairead Hegarty,Patrick J Morrison
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Rare case of dual diagnosis in consanguineous family: a case report. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-07-01 Neha Agrawal,Kausik Mandal
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CK syndrome: a rare cause of developmental delay in a young boy. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-06-03 Meenal Garg, Shilpa D Kulkarni, Rafat Sayed, Anaita Udwadia Hegde
CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolism. There are only a few reports defining the phenotypic spectrum of this rare disorder. We describe a new patient from the Indian subcontinent who presented
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KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-05-19 Ataf H Sabir, Jameela Sheikh, Vasantha Gowda, Colin Wallis, Surendra Singham, Dipalee Durve, Alessandra Cocca, Muriel Holder-Espinasse, Melita Irving
KIAA0753-related skeletal ciliopathy is a recently described recessive disorder causing skeletal dysplasia and overlapping features of certain ciliopathies; Joubert, Jeune and Oro-facial-digital syndromes. We describe a ninth case that expands the phenotype; a 10-year-old girl with rhizomelic short stature (-5.6 SD), macrocephaly, developmental delay, CNS anomalies (thin corpus callosum, bilateral
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Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-12 Shirisha Pulipaka, Anit Kaur, Prateek Bhatia, Inusha Panigrahi, Anupriya Kaur
Chromosomal aberrations are an important cause of multiple malformation syndromes. Multiple ligation-dependent probe amplification (MLPA) a molecular cytogenetic technique has been suggested as a screening tool for the detection of chromosomal aberrations in resource-limited settings. MLPA can detect chromosomal microdeletions or duplications at approximately 40 chromosomal regions in a single experiment
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A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-07-01 Elif Ece Kalaoglu,Ayberk Turkyilmaz,Bilgen Bilge Geckinli,Esra Arslan Ates,Ali Mentes,Ahmet Arman
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A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-12 Elif Ece Kalaoglu,Ayberk Turkyılmaz,Bilgen Bilge Geckinli,Esra Arslan Ates,Ali Mentes,Ahmet Arman
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Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-01 Mamatha Gowda,Shruthi Mohan,Devika Ramesh,Navya Chinta
Distal arthrogryposis (DA) is a heterogeneous group of disorders with congenital, nonprogressive contractures affecting the joints of distal extremities. About 13 distinct subtypes have been defined based on phenotypic features and the different genes known to be causative typically encode for sarcomeric proteins of the contractile apparatus. Although most subtypes are inherited in autosomal dominant
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Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-01 Ozgur Cogulu,Neda Mojarrab,Ozguc S Simsir,Asude Durmaz,Ayca Aykut,Dilsah Cogulu
Gingival fibromatosis with distinctive facies presents a rare clinical picture. It is characterized by gingival fibromatosis in conjunction with some craniofacial dysmorphic features such as relative macrocephaly, bushy eyebrows, synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge, hypoplastic nares, cupid-bow mouth and a high palate. Autosomal recessive inheritance has
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Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-01 Sapna Sandal,Tinku Bali Razdan,Jyotsna Verma,Sudhisha Dubey,Apurba Ghosh,Renu Saxena,Ratna Dua Puri
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Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-01 Sapna Sandal,Tinku Bali Razdan,Jyotsna Verma,Sudhisha Dubey,Apurba Ghosh,Renu Saxena,Ratna Dua Puri
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X-linked BCOR-related syndrome in two male siblings. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-01 Nicole E Archer,Leanne Mercer,Sharan Goobie,Lea Velsher,Samantha Colaiacovo,Chitra Prasad
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X-linked BCOR-related syndrome in two male siblings. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-04-01 Nicole E Archer,Leanne Mercer,Sharan Goobie,Lea Velsher,Samantha Colaiacovo,Chitra Prasad
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Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-07-01 Drew M Cratsenberg,Peter J Winningham,Lois J Starr
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6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-07-01 Ikuko Ohashi,Yukiko Kuroda,Yumi Enomoto,Hiroaki Murakami,Mitsuo Masuno,Kenji Kurosawa
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Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-03-19 Drew M Cratsenberg,Peter J Winningham,Lois J Starr
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6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-03-19 Ikuko Ohashi,Yukiko Kuroda,Yumi Enomoto,Hiroaki Murakami,Mitsuo Masuno,Kenji Kurosawa
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Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1). Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-02-17 Ataf H Sabir, Juhi Singhal, Jessica Man, Nana Ekuntan Mensah, Joo Wook Ahn, Moira S Cheung, Melita Irving
We report a further case of spondylometaphyseal dysplasia - corner fracture type due to the fibronectin-1 gene (SMD-FN1) in a child originally thought to have metaphyseal chondrodysplasia-Brussels type (MCD Brussels). We highlight phenotypic differences with the SMD-FN1 published reports. This case is unique in terms of the method of molecular confirmation. Findings from the 100 000 Genomes Project
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Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-02-17 Mio Aerden, Lore Vallaeys, Maureen Holvoet, Liesbeth De Waele, Kris Van Den Bogaert, Koen Devriendt
Homozygous or compound heterozygous mutations in STRADA cause polyhydramnios, megalencephaly and symptomatic epilepsy syndrome (PMSE), with additional features of distinctive facial traits and severe developmental delay or intellectual disability. This syndrome was first defined in 16 Old Order Mennonite patients, carrying a homozygous STRADA deletion of exon 9-13. Five additional PMSE patients have
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Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-07-01 Ozge Yucel Celik,Mine Gultekin Calik,Ayse Keles,Tulay Tos,Aykan Yucel,Dilek Sahin
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Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-02-17 Ozge Yucel Celik,Mine Gultekin Calik,Ayse Keles,Tulay Tos,Aykan Yucel,Dilek Sahin
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Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-02-08 Fernanda S Jehee, Tia Bouma, Arjan Bouman
Interstitial deletions encompassing the 10q24.32q25.1 region are rare. Only three patients have been reported in literature to date. We describe a 44-year-old female with a 2.8 Mb microdeletion in 10q24.32q25.1. Clinical findings in this patient are delineated and compared to previously reported patients with (partly) overlapping microdeletions. Based on the few descriptions available in the literature
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Delayed diagnosis of Williams-Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-01-01 Nina B Gold,Katherine A Nash,Joanna Perdomo,Daniel J Zheng,Alexandra Power-Hays,Tyler Rainer,Fuki Hisama,Barbara Pober,Emily Feinberg
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Desbuquois dysplasia Kim variant: a rare case report syndrome. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-01-01 Neha Agrawal,Priyanka Srivastava,Shubha R Phadke
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SOX11-related syndrome: report on a new case and review. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-01-01 Victor Wakim,Pratibha Nair,Valérie Delague,Sami Bizzari,Mahmoud Taleb Al-Ali,Christel Castro,Alicia Gambarini,Stephany El-Hayek,André Megarbane
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TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings. Clin. Dysmorphol. (IF 0.7) Pub Date : 2021-01-01 Florencia Bevilacqua,Guillermo Alberto,Santiago Pablo Duarte,Marina Serra,Julieta Basterra,Lucía Espeche,Roxana Inés Cerretini,Andrea Paula Solari
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Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review. Clin. Dysmorphol. (IF 0.7) Pub Date : 2017-5-16 Kaihui Zhang,Chen Meng,Jing Ma,Min Gao,Yuqiang Lv,Yi Liu,Zhongtao Gai
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of
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A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. Clin. Dysmorphol. (IF 0.7) Pub Date : 2017-4-7 Mehmet B Duz,Emre Kirat,Paul J Coucke,Erkan Koparir,Alper Gezdirici,Anne De Paepe,Bert Callewaert,Mehmet Seven
Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead