Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello-Carey or new syndrome?
| Autor: | I. Buntinx, M. Vaerenberg, A. Jespers, K. Melis, G. Janssens |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Heart Defects
Congenital Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Genes Recessive Disease Corpus callosum Diagnosis Differential Variable Expression Cerebellum Internal medicine medicine Humans Abnormalities Multiple Hirschsprung Disease Hypertelorism Cerebellar hypoplasia Genetics (clinical) Laryngeal hypoplasia Megacolon business.industry Infant Newborn Brain Syndrome Anatomy medicine.disease Hypoplasia Cleft Palate Endocrinology Face Agenesis of Corpus Callosum medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics. 47:299-302 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320470232 |
| Popis: | We describe 2 sibs with multiple congenital anomalies. The main manifestations include hypoplasia of the corpus callosum and/or cerebellar hypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and Hirschsprung disease. The presence in 2 sibs born to healthy, consanguineous parents suggests autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition described in 1988 by Toriello and Carey. |
| Databáze: | OpenAIRE |
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