A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP).
In 1993, Viljoen and Smart described a woman with ectrodactyly of the feet, midline facial cleft, microphthalmia, and mental retardation in association with a de novo chromosome 6;13 translocation. We present a man with similar features who had a normal karyotype.
Suthers
G
G
SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia.
Morris
L
L
D000328:Adult; D005532:Foot Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D008850:Microphthalmos / Q000473:pathology*; D011378:Prognathism / Q000473:pathology*; D013577:Syndrome