Race Hermione, Hall Christine M, Harrison Mike G, Quarrell Oliver W, Wakeling Emma L
North West London Regional Genetics Centre (Kennedy-Galton Centre), North West London Hospitals NHS Trust, Harrow Department of Paediatric Radiology, Great Ormond Street Hospital, London Department of Paediatric Dentistry, Cardiff Dental School, Cardiff Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
Clin Dysmorphol. 2010 Jan;19(1):23-27. doi: 10.1097/MCD.0b013e328334557e.
We describe four children from two consanguineous families with distinctive hand and foot anomalies including preaxial brachydactyly, together with phalangeal duplication, symphalangism and hyperphalangism of fingers I-III. These anomalies are remarkably similar to those described in a previous case report. Additional features were noted both in this case and, to variable degrees, in the four children reported here. These included sensorineural deafness, optic atrophy, mild facial dysmorphism, orodental anomalies and developmental delay. Autosomal recessive inheritance was previously suggested as the patient had a similarly affected brother and his parents were consanguineous. These four cases provide additional evidence for a novel, autosomal recessive disorder involving limb and other associated anomalies.
我们描述了来自两个近亲家庭的四名儿童，他们有独特的手足异常，包括轴前短指畸形，以及Ⅰ-Ⅲ指的指骨重复、关节融合和多指畸形。这些异常与之前一份病例报告中所描述的异常极为相似。在该病例以及此处报告的四名儿童中，在不同程度上还发现了其他特征。这些特征包括感音神经性耳聋、视神经萎缩、轻度面部畸形、口腔牙齿异常和发育迟缓。由于患者有一个同样患病的兄弟且其父母为近亲，之前提示为常染色体隐性遗传。这四个病例为一种涉及肢体及其他相关异常的新型常染色体隐性疾病提供了更多证据。
