Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents
| Autor: | Tal Nachlieli, Ruth Gershoni-Baruch |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics Eye disease Choreoathetosis Genes Recessive Consanguinity Dextrocardia Microphthalmia Internal medicine Intellectual Disability medicine Humans Microphthalmos Abnormalities Multiple Athetosis Genetics (clinical) Involuntary movement Autosomal recessive inheritance business.industry Infant Newborn Syndrome medicine.disease Cleft Palate Endocrinology medicine.symptom business Unusual face |
| Zdroj: | American journal of medical genetics. 42(4) |
| ISSN: | 0148-7299 |
| Popis: | We report on an infant (born to consanguineous parents) with an unusual face, microphthalmia, cleft palate, dextrocardia, choreoathetosis, and mental retardation. This child has many traits in common with an infant recently described by Aughton [1990] as a probable new syndrome. |
| Databáze: | OpenAIRE |
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