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Article

Multiple synostoses syndrome: Clinical report and retrospective analysis.

American journal of medical genetics. Part A - 1 Jun 2020

Pan Zhaoyu, Lu Wei, Li Xiaohong, Huang Shasha, Dai Pu, Yuan Yongyi

Abstract excerpt

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological...

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Identifiers

PMID: 32259393
DOI: 10.1002/ajmg.a.61583

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