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多毛症、面容粗糙、短指畸形、肥胖和智力迟钝。

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.

作者信息

Pavone L, Rizzo R, Ruggieri M, Sorge G

机构信息

Clinica Pediatrica Università di Catania, Italy.

出版信息

Clin Dysmorphol. 1996 Jul;5(3):223-9.

PMID:8818451
Abstract

A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.

摘要

报告了一名17岁男孩,其具有一系列复杂的畸形特征,包括终毛全身性多毛症、面容粗糙、身材矮小、肥胖、近端指骨宽阔的短指畸形、指甲小且色素异常以及智力发育迟缓。文中讨论了雄激素化内分泌病、肥胖/智力发育迟缓综合征以及伴有多毛症且指甲小或无指甲的病症,并特别强调了“终毛全身性多毛症和牙龈增生综合征”,该综合征与该患者有一些共同特征。

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