title: Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome.
abstract: Delleman syndrome (oculocerebrocutaneous syndrome) is characterized by orbital cysts, periorbital skin appendages, and focal cutaneous hypoplasia. We describe a male infant with findings associated with this condition, including an eyelid appendage, discrete hypoplastic skin lesions, unilateral microphthalmia, and hydrocephalus. In addition, he had striking unilateral mandibular hypoplasia and microtia, features often present in the oculoauriculovertebral (OAV) spectrum. However, hypoplastic skin lesions and eyelid appendages are not features of the OAV spectrum. The marked degree of hemifacial microsomia present in this child has not been previously noted in Delleman syndrome. Two patients with Delleman syndrome have been previously described who have features typically present in the OAV spectrum. This case demonstrates that characteristics of both Delleman syndrome and the OAV spectrum may be present in one individual.
authors.affiliation: Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Ming
authors.forename: J
authors.initials: J
authors.lastname: Katowitz
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: R E
authors.initials: RE
authors.lastname: Schnur
authors.forename: J V
authors.initials: JV
authors.lastname: Hunter
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D003937:Diagnosis, Differential; D005143:Eyelids / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000151:congenital* / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities; D008850:Microphthalmos / Q000473:pathology*; D012868:Skin Abnormalities / Q000473:pathology*; D013577:Syndrome