Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
| Autor: | L I AL-Gazali, D Bakalinova |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Male
Craniofacial abnormality Computed tomography Frontal lobe atrophy Genes Recessive Consanguinity Osteochondrodysplasias Pathology and Forensic Medicine Multiple epiphyseal dysplasia Craniofacial Abnormalities Atrophy medicine Humans Abnormalities Multiple Child Genetics (clinical) medicine.diagnostic_test business.industry Macrocephaly Facies General Medicine Anatomy Syndrome medicine.disease Frontal Lobe Pedigree Radiography Facial appearance Pediatrics Perinatology and Child Health Female medicine.symptom business |
| Zdroj: | Clinical dysmorphology. 7(3) |
| ISSN: | 0962-8827 |
| Popis: | We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome. |
| Databáze: | OpenAIRE |
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