MULTIPLE MILIA IN A NEWBORN WITH CONGENITAL MALFORMATIONS: ORAL-FACIAL-DIGITAL SYNDROME TYPE 1

作者：Nanda Arti^*; Sharaf Amr; AlSaleh Qasem A

来源：Pediatric Dermatology, 2010, 27(6): 669-670.

DOI：10.1111/j.1525-1470.2010.01334.x

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.

• 出版日期2010-12