Opitz trigonocephaly syndrome
| Autor: | Renate Hofmann, Thomas Haaf, Michael Schmid |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Heart Defects
Congenital Micrognathism Trigonocephaly Genes Recessive Craniosynostosis Intellectual Disability medicine Humans Abnormalities Multiple Syndactyly Genetics (clinical) Polydactyly business.industry Infant Newborn Labia majora Anatomy Eisenmenger Complex medicine.disease Pedigree medicine.anatomical_structure Polysyndactyly Face Female business C syndrome Head |
| Zdroj: | American journal of medical genetics. 40(4) |
| ISSN: | 0148-7299 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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