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

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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Nanda A,Sharaf A,Alsaleh QA

doi

10.1111/j.1525-1470.2010.01334.x

subject

Has Abstract

pub_date

2010-11-01 00:00:00

pages

669-70

issue

6

eissn

0736-8046

issn

1525-1470

journal_volume

27

pub_type

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