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Kleeblattschädel skull presenting in concert with Pfeiffer syndrome
Egyptian Journal of Neurosurgery ( IF 0.7 ) Pub Date : 2019-12-10 , DOI: 10.1186/s41984-019-0068-1
Mir Ibrahim Sajid , Noor Malik , Samira S. Balouch , Gohar Javed

Kleeblattschädel skull, also known as the cloverleaf is a complex synostosis which presents with an enlarged tri-lobar skull resulting temporal bulging and a flat posterior skull, a rare find in the population. This pansynostosis is associated with other congenital syndromes which include Crouzon, Pfeifer, and Carpenter’s. The genetic disorder Pfeiffer syndrome results from skull bones’ premature fusion characterized by deformities of the hand and feet. The author reports a 10-month-old girl who presented with a tri-lobar skull and wide toes which is a significant finding of Pfeiffer syndrome. A 10-month-old girl presents with congenital obstructive hydrocephalus due to cloverleaf skull with horizontally enlarged head and large fontanelles. The child also had mid-facial hypoplasia and pre-axial bilateral lower limb polydactyly. Wide toes were also observed, an indicator of Pfeiffer’s Syndrome. Computed tomography (CAT) scans grossly abnormal craniofacial appearances, with premature closure of the sagittal suture giving a cloverleaf skull appearance. There was also a significant thinning of the brain parenchyma. Premature closure of sutures leads to a forced growth in a plane perpendicular to the closed suture. Cloverleaf deformity can present with multiple syndromes such as Pfeiffer’s. This leads to gross alteration of the skull with potential underlying morbidity.

中文翻译:

Kleeblattschädel头骨与Pfeiffer综合征同时出现

Kleeblattschädel头骨(又称苜蓿叶)是一种复杂的突触症,表现为三叶形颅骨扩大,导致颞部膨出,后颅骨扁平,这在人群中很少见。这种全鼻突增生与其他先天性综合症有关,包括克鲁佐,普发和卡彭特氏综合症。Pfeiffer综合征是遗传性疾病,其特征是颅骨过早融合,其特征是手脚畸形。作者报告了一个10个月大的女孩,她的头部呈三叶形,脚趾宽,这是菲佛综合症的重要发现。一名10个月大的女孩因具有三叶形头骨,头部水平扩大和大font门而出现先天性阻塞性脑积水。这个孩子还患有面部中部发育不全和前轴双侧下肢多指。还观察到宽脚趾,这是菲佛氏综合症的指标。计算机断层扫描(CAT)扫描严重的颅面异常,矢状缝的过早闭合形成了三叶草的头骨外观。脑实质也明显变薄。缝线过早闭合会导致在垂直于闭合缝线的平面内强制生长。苜蓿叶形畸形可表现为多种综合征,例如普发氏。这会导致颅骨的彻底改变,并具有潜在的潜在发病率。缝线过早闭合会导致在垂直于闭合缝线的平面内强制生长。苜蓿叶形畸形可表现为多种综合征,例如普发氏。这会导致颅骨的彻底改变,并具有潜在的潜在发病率。缝线过早闭合会导致在垂直于闭合缝线的平面内强制生长。苜蓿叶形畸形可表现为多种综合征,例如普发氏。这会导致颅骨的彻底改变,并具有潜在的潜在发病率。
更新日期:2019-12-10
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