The association of hemifacial microsomia, homolateral micro/anophthalmos, hemihypotrophy, dental anomalies, submucous cleft palate, CNS malformations and hypopigmented skin lesions following Blaschko's lines in two unrelated female patients. Further evidence for a lethal mutation surviving in mosaic form in "hypomelanosis of Ito".
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Lemaire
J
J
Timmermans
J
J
Soekarman
D
D
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000002:abnormalities; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics; D005146:Facial Asymmetry / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005804:Genes, Lethal; D006801:Humans; D007223:Infant; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics