一名患有先天性畸形的新生儿出现多发性粟丘疹：1型口面指综合征。

Multiple milia in a newborn with congenital malformations: oral-facial-digital syndrome type 1.

作者信息

Nanda Arti, Sharaf Amr, Alsaleh Qasem A

机构信息

As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.

出版信息

Pediatr Dermatol. 2010 Nov-Dec;27(6):669-70. doi: 10.1111/j.1525-1470.2010.01334.x.

DOI:10.1111/j.1525-1470.2010.01334.x

PMID:21510010

Abstract

Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.

摘要

1型口面指综合征（OMIM #311200）是一种X连锁显性发育障碍。在已描述的13种口面指综合征临床变体中，1型口面指综合征对皮肤科医生具有重要意义，因为它存在先天性粟丘疹和毛发稀少，而其他变体中未描述这些症状。由于1型口面指综合征在遗传学上是一个独特的实体，了解这些特征有助于在临床上将其与其他变体区分开来。