Opitz trigonocephaly syndrome.
We report on a patient with Opitz trigonocephaly syndrome. The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.
Haaf
T
T
Department of Genetics, Stanford University School of Medicine, CA 94305.
Hofmann
R
R
Schmid
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D004541:Eisenmenger Complex / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006257:Head / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008844:Micrognathism / Q000235:genetics; D010375:Pedigree