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右上肢体芽重复及多乳头症、左侧半身肥大及先天性髋关节脱位、面部畸形、先天性心脏病和脊柱侧弯:类似紊乱的谱系还是模式形成基因缺陷?

Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

作者信息

Sabry M A, al-Saleh Q, al-Saw'an R, al-Awadi S A, Farag T I

机构信息

Kuwait Medical Genetics Centre, Sulibikhat.

出版信息

J Med Genet. 1995 Jul;32(7):555-6. doi: 10.1136/jmg.32.7.555.

Abstract

A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

摘要

本文描述了一名患有右上肢重复畸形、多乳头、左侧半侧肥大、先天性髋关节脱位、面部畸形、先天性心脏病和脊柱侧弯的索马里女婴。上述这种异常模式似乎此前尚未见报道。文中简要讨论了导致该表型的可能的发育遗传学机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ffb/1050551/09bd6f004808/jmedgene00274-0061-a.jpg

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