GAPO综合征：一例新病例。
GAPO syndrome: a new case.
作者信息
Sandgren G
机构信息
Department of Pediatrics, Nykøbing Falster Centralsygehus, Nykøbing Falster, Denmark.
出版信息
Am J Med Genet. 1995 Jul 31;58(1):87-90. doi: 10.1002/ajmg.1320580117.
PMID:7573163
Abstract
The fifteenth known case of GAPO syndrome is presented: a probable autosomal-recessive condition of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and optic atrophy. This article contains the clinical report of a 9-year-old girl and a short review of the hitherto-known cases. The syndrome could be attributed to either ectodermal dysplasia or perhaps an accumulation of extracellular connective tissue matrix.
摘要
本文报告了第15例已知的GAPO综合征病例：这是一种可能为常染色体隐性遗传的疾病，其特征为生长发育迟缓、脱发、牙齿萌出障碍（假性无牙症）和视神经萎缩。本文包含一名9岁女孩的临床报告以及对迄今已知病例的简要综述。该综合征可能归因于外胚层发育异常，或者可能是细胞外结缔组织基质的积累。
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