Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age. To date, reports on this disorder have focused on phenotypic findings, endocrine changes, and genetic variation. We present a 14-year overview of a patient, from birth to skeletal maturity, with acroscyphodysplasia, noting the significant orthopaedic challenges and the need for a multidisciplinary team, including specialists in genetics, orthopaedics, endocrinology, and otolaryngology, to optimize long-term outcomes. The patient presented as a newborn with dysmorphic facial features, including severe midface hypoplasia, malar flattening, nasal stenosis, and feeding difficulties. Radiologic findings were initially subtle, and a skeletal survey performed at age 7 months was initially considered normal. Genetic evaluation revealed a variant in PDE4D and subsequent pseudohypoparathyroidism. The patient presented to the department of orthopaedics, at age 2 years 9 months with a leg length discrepancy, right knee contracture, and severely crouched gait. Radiographs demonstrated cone-shaped epiphyses of the right distal femur and proximal tibia, but no evidence of growth plate changes in the left leg. The child developed early posterior epiphyseal arrest on the right side and required multiple surgical interventions to achieve neutral extension. Her left distal femur developed late posterior physeal arrest and secondary contracture without evidence of schypho deformity, which improved with anterior screw epiphysiodesis. The child required numerous orthopaedic surgical interventions to achieve full knee extension bilaterally. At age 13 years 11 months, she was an independent ambulator with erect posture. The child underwent numerous otolaryngology procedures and will require significant ongoing care. She has moderate intellectual disability. Key challenges in the management of this case included the subtle changes on initial skeletal survey and the marked asymmetry of her deformity. While cone-shaped epiphyses are a hallmark of acrodysostosis, posterior tethering/growth arrest of the posterior distal femur has not been previously reported. Correction of the secondary knee contracture was essential to improve ambulation. Children with acroscyphodysplasia require a multidisciplinary approach, including radiology, genetics, orthopaedics, otolaryngology, and endocrinology specialties.

中文翻译：

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患有肢端肥大症的儿童的十四年随访，强调需要多学科管理：一例病例报告

髋关节发育不良已被描述为2型肢端不全症和假性甲状旁腺功能减退症的表型变异。在肢端关节固定症中，骨骼特征可包括短指，面部发育不全，圆锥状骨epi，身材矮小和骨龄增加。迄今为止，有关这种疾病的报道集中在表型发现，内分泌变化和遗传变异上。我们提供了一个从出生到骨骼成熟，患有肩峰发育不良的患者的14年概述，指出了巨大的骨科挑战以及需要包括遗传学，骨科，内分泌学和耳鼻咽喉科专家在内的多学科团队以优化长期治疗的重要性结果。该患者表现为畸形的面部特征的新生儿，包括严重的中面部发育不全，黄斑扁平，鼻腔狭窄和喂养困难。放射学检查最初微妙，最初认为在7个月大时进行的骨骼检查正常。遗传评估显示PDE4D和随后的假性甲状旁腺功能减退症的变异。该患者于2岁9个月出现在骨科，腿长不符，右膝挛缩，步态严重蹲下。放射线照片显示右股骨远端和胫骨近端呈锥形骨epi，但没有证据表明左腿有生长板改变。这名儿童在右侧发生了早期的后epi骨停止运动，需要多次手术干预才能达到中性伸展。她的左股骨远端发育迟发性骨arrest停和继发性挛缩，而没有schypho畸形的迹象，随着前螺钉epi骨的切除而改善。这名儿童需要大量的整形外科手术才能实现双侧全膝关节伸展。在13岁11个月的年龄，她是一个具有直立姿势的独立步行者。这名儿童接受了许多耳鼻喉科手术，将需要持续不断的护理。她有中度智力障碍。处理该病例的主要挑战包括初始骨骼检查中的细微变化以及她的畸形的明显不对称性。虽然锥形骨phy是肩突固定症的标志，但先前尚未报告股骨后部的后部系留/生长停滞。继发性膝关节挛缩的矫正对于改善行走能力至关重要。患有肢端关节发育不良的儿童需要采取多学科方法，包括放射学，遗传学，骨科，耳鼻喉科，