Schinzel-Giedion syndrome: further delineation of the phenotype
| Autor: | Alison M. Elliott, der Kaloustian Vm, Meagher-Villemure K, Oudjhane K |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Male
Hirsutism Pathology medicine.medical_specialty Fulminant Ribs Pathology and Forensic Medicine Fatal Outcome Zona fasciculata Humans Medicine Abnormalities Multiple Pathological Genetics (clinical) hirsutism Hypospadias business.industry Skull Schinzel–Giedion syndrome Infant Pneumonia Syndrome General Medicine Choanal stenosis medicine.disease Clubfoot Phenotype medicine.anatomical_structure Face Pediatrics Perinatology and Child Health Anatomy Steatosis business |
| Zdroj: | Clinical Dysmorphology. 5:135-142 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/00019605-199604000-00005 |
| Popis: | We describe a male infant with findings typical of Schinzel-Giedion syndrome. Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. The patient suffered from seizures and died at 14 months of age of fulminant bronchopneumonia. Pathological examination revealed steatosis in the liver as well as lipid vacuolization of the zona fasciculata of the adrenals. |
| Databáze: | OpenAIRE |
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