Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome.
Publication/Presentation Date
10-1-1998
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.
Volume
7
Issue
4
First Page
279
Last Page
283
ISSN
0962-8827
Published In/Presented At
Ming, J. E., Katowitz, J., McDonald-McGinn, D. M., Schnur, R. E., Hunter, J. V., & Zackai, E. H. (1998). Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome. Clinical dysmorphology, 7(4), 279–283. https://doi.org/10.1097/00019605-199810000-00008
Disciplines
Diagnosis | Medicine and Health Sciences | Other Analytical, Diagnostic and Therapeutic Techniques and Equipment | Radiology
PubMedID
9823495
Department(s)
Department of Radiology and Diagnostic Medical Imaging
Document Type
Article