Opitz trigonocephaly syndrome
- 15 September 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 40 (4) , 444-446
- https://doi.org/10.1002/ajmg.1320400413
Abstract
We report on a patient with Opitz trigonocephaly syndrome. The girl was the firstborn 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.Keywords
This publication has 13 references indexed in Scilit:
- “C” trigonocephaly syndrome: Clinical variability and possibility of surgical treatmentAmerican Journal of Medical Genetics, 1990
- “C” trigonocephaly syndrome: Two additional casesAmerican Journal of Medical Genetics, 1990
- Opitz C syndrome and pseudohypoaldosteronismAmerican Journal of Medical Genetics, 1990
- Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndromeAmerican Journal of Medical Genetics, 1986
- Trigonocephaly: A new familial syndromeAmerican Journal of Medical Genetics, 1984
- Opitz trigonocephaly syndrome: Report of two casesEuropean Journal of Pediatrics, 1984
- Further delineation of the C (trigonocephaly) syndromeAmerican Journal of Medical Genetics, 1981
- Trigonocephaly and associated minor anomalies in mother and son.Journal of Medical Genetics, 1976
- The Opitz Trigonocephaly SyndromeAmerican Journal of Diseases of Children, 1975
- Orbital Hypotelorism, Arhinencephaly, and TrigonocephalyRadiology, 1960