Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?
We report on a patient with multiple congenital anomalies including anophthalmia, cleft lip and palate, and central nervous system anomalies similar to the case reported by Leichtman et al. [1994: Am J Med Genet 50:39-41] and to oculocerebrocutaneous (Delleman) syndrome. Although the two cases and those with oculocerebrocutaneous syndrome may represent separate but overlapping entities, our patient and the case described by Leichtman et al. [1994: Am J Med Genet 50:39-41] may represent a more severe form of oculocerebrocutaneous syndrome.
Angle
B
B
Department of Pediatrics, University of Louisville, Kentucky 40202, USA.
Hersh
J H
JH
D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000473:pathology*; D001927:Brain Diseases / Q000473:pathology*; D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D003560:Cysts / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype