Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.
We describe the clinical presentation of a boy with Peters anomaly and a cataract of the left eye in association with multiple midline defects. His extraocular developmental abnormalities include cleft lip and palate, cardiac anomalies, an atretic cranial meningocele, as well as malformation of the left ear with chronic otitis media. Genetic analysis revealed a balanced paracentric inversion of chromosome 4, inv(4)(q12q13.3), also present in his asymptomatic father and siblings. His normal stature and cognitive development distinguish this case from the Peters Plus syndrome. The presence of a cranial meningocele represents a new association with Peters anomaly.
Neilan
Edward
E
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Pikman
Yana
Y
Kimonis
Virginia E
VE
D000015:Abnormalities, Multiple / Q000235:genetics*; D000867:Anterior Chamber / Q000002:abnormalities*; D007446:Chromosome Inversion / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000235:genetics*; D010033:Otitis Media / Q000235:genetics