医学
侏儒症
常染色体隐性遗传
儿科
生长迟缓
解剖
遗传学
怀孕
基因
生物
作者
Raoul C. M. Hennekam,Mary J. van Schooneveld,Holly H Ardinger,Marie-José H. van den Boogaard,D. FRIEDBURG,Sabine Rudnik‐Schöneborn,John Seguin,Kathleen B. Weatherstone,D. Wittebol-Post,P. MEINEKE
出处
期刊:Clinical Dysmorphology
[Ovid Technologies (Wolters Kluwer)]
日期:1993-10-01
卷期号:2 (4): 283???300-283???300
被引量:11
标识
DOI:10.1097/00019605-199310000-00001
摘要
Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and development retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorder may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some fetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.
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