帕皮永-勒热和普索姆1型口面指综合征

Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume.

作者信息

Larralde de Luna M, Raspa M L, Ibargoyen J

机构信息

Section of Pediatric Dermatology, Hospital José María Ramos Mejía, Buenos Aires, Argentina.

出版信息

Pediatr Dermatol. 1992 Mar;9(1):52-6. doi: 10.1111/j.1525-1470.1992.tb00326.x.

DOI:10.1111/j.1525-1470.1992.tb00326.x

PMID:1574477

Abstract

A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms. She also had diffuse, nonscarring alopecia with wiry, dry hair. Results of roentgenographic and ultrasound studies were normal. At her present age of 11 months, her psychomotor development is appropriate for her age.

摘要

一名女婴被诊断为1型口面指综合征（OFDS），伴有口腔（腭裂、悬雍垂裂、舌裂、多处肥厚系带）、面部（面部、头皮和耳部有多处粟丘疹；额部突出；眼距过宽；鼻翼软骨发育不全；小颌畸形）和手指（双手双侧短指畸形）症状。她还患有弥漫性、非瘢痕性脱发，头发硬且干燥。X线和超声检查结果正常。在她目前11个月大时，其精神运动发育与其年龄相符。