Jindal Geetanjali, Parmar Veena R, Gupta Vipul Kumar
Department of Pediatrics, Government Medical College, Sector 32, Chandigarh, India.
Indian J Hum Genet. 2009 Sep;15(3):140-2. doi: 10.4103/0971-6866.60191.
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.
裂手/裂足畸形是一种罕见的肢体畸形，表现为手足中部裂缺以及指骨、掌骨和跖骨发育不全/发育不良。当作为一种孤立的异常情况出现时，通常以常染色体显性形式遗传。我们报告了一例常染色体隐性遗传的病例，并讨论了该畸形的产前诊断、遗传咨询和治疗。
