指外畸形或龙虾爪综合征

Dama Aneesha, G. Lakshmi, K. Saraswathi
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引用次数: 0

摘要

手足裂畸形是一种罕见的肢体畸形,伴有手足正中裂,指骨、掌骨和跖骨发育不全/发育不全。我们报告一例常染色体显性遗传,并讨论了该畸形的产前诊断、遗传咨询和治疗。关键词:常染色体显性,裂手/裂脚畸形,并指畸形
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Ectrodactyly or Lobster Claw Syndrome
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 dominant inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation. keywords: autosomal dominant,split hand/split foot malformation,syndactyly
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