Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation
| Autor: | Roseli Maria Zechi-Ceide, Maria Leine Guion-Almeida, Antonio Richieri-Costa |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Heart Defects
Congenital Male Ectrodactyly Cleft Lip Developmental Disabilities Heart defect Abnormal ears Pathology and Forensic Medicine X ray computed Humans Medicine Abnormalities Multiple Genetics (clinical) Cleft lip palate Growth retardation Autosomal recessive inheritance business.industry Infant Newborn Brain Ear Syndrome General Medicine Anatomy medicine.disease Cleft Palate Male patient Face Pediatrics Perinatology and Child Health Syndactyly Tomography X-Ray Computed business |
| Zdroj: | Clinical Dysmorphology. 9:269-272 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/00019605-200009040-00007 |
| Popis: | We report on a male patient with a constellation of malformations, including cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect (CHD), and growth retardation. A similar association has been previously reported twice [Richieri-Costa and Orquizas (1987) Rev Brasil Genet X:787-792; Giannotti et al. (1995) J Med Genet 32:72-74], and autosomal recessive inheritance was proposed. |
| Databáze: | OpenAIRE |
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