The syndrome of hirschsprung disease, microcephaly, unusual face, and mental retardation
| Autor: | Johanne Morel, Fahed Halal |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Microcephaly Disease Short stature Neuroimaging Intellectual Disability Internal medicine medicine Humans Abnormalities Multiple Hirschsprung Disease Child Genetics (clinical) Megacolon Psychomotor retardation business.industry Brain Syndrome medicine.disease Palpebral fissure Endocrinology Face medicine.symptom business Unusual face |
| Zdroj: | American Journal of Medical Genetics. 37:106-108 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320370125 |
| Popis: | Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome. |
| Databáze: | OpenAIRE |
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