New autosomal dominant radial ray hypoplasia syndrome.
Radial ray anomalies can occur as isolated defects [Temtamy and McKusick, 1978] or as components of genetic syndromes, which are delineated on the basis of the associated anomalies, inheritance, chromosome, or hematological abnormalities. Syndrome identification is important because of the prognostic implications of the particular hematologic, oncologic, and clinical complications specific for each condition. In some instances overlap and variable expression of the manifestations associated with the radial ray defect confuse nosological definition and genetic counselling. In this paper we describe a father and his 2 daughters, who manifested variable defects of the radial ray and concurrent choanal malformations and esotropia. This apparently autosomal dominant condition differs from other radial ray hypoplasia disorders with respect to the associated anomalies and the absence of any hematologic or chromosomal aberrations.
Department of Human Genetics, University of Cape Town Medical School, South Africa.
J
J
Goldblatt
D
D
Viljoen
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002754:Choanal Atresia / Q000235:genetics*; D004948:Esotropia / Q000151:congenital / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013285:Strabismus / Q000235:genetics*; D013577:Syndrome