title: 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.
authors.affiliation: As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait. artinanda@hotmail.com
authors.forename: Arti
authors.initials: A
authors.lastname: Nanda
authors.forename: Amr
authors.initials: A
authors.lastname: Sharaf
authors.forename: Qasem A
authors.initials: QA
authors.lastname: Alsaleh
mesh_terms: D002972:Cleft Palate / Q000473:pathology*; D004814:Epidermal Cyst / Q000473:pathology*; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007039:Hypotrichosis / Q000473:pathology*; D007231:Infant, Newborn; D009958:Orofaciodigital Syndromes / Q000473:pathology