title: Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4.
abstract: Congenital grouped pigmentation of the retinal pigment epithelium (CGPRPE) is a rare ocular abnormality that has been described as an isolated finding or in conjunction with a few systemic conditions. We present the case of a patient with CGPRPE who also has microcephaly, intrauterine growth retardation, mild developmental delay, and deletions of 13q33.3-q34 and 11p15.4. We believe this represents a distinct syndrome in which CGPRPE and microcephaly are the predominant features and that the responsible gene possibly resides in one of the deleted chromosomal regions.
authors: Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio.
authors: Ajaz M
authors: AM
authors: Siddiqui
authors: David B
authors: DB
authors: Everman
authors: R Curtis
authors: RC
authors: Rogers
authors: Barbara R
authors: BR
authors: DuPont
authors: Brooke T
authors: BT
authors: Smith
authors: Laurie H
authors: LH
authors: Seaver
authors: Augusto
authors: A
authors: Morales
authors: Mary
authors: M
authors: Varn
authors: Bruce
authors: B
authors: Cohen
authors: Elias I
authors: EI
authors: Traboulsi
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D055213:Retinal Pigment Epithelium / Q000473:pathology*