Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: A midline developmental field defect
| Autor: | Reuben D. Rohn, Brian Wood, Lawrence G. Leichtman |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Central Nervous System
congenital hereditary and neonatal diseases and abnormalities Cleft Lip Hypothalamus Central nervous system disease Anophthalmos medicine Humans Abnormalities Multiple Cns anomalies Genetics (clinical) Anophthalmia Cleft lip palate business.industry Infant Newborn Macrocephaly Anatomy medicine.disease Hydrocephalus Cleft Palate Face Diabetes insipidus Female medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics. 50:39-41 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320500108 |
| Popis: | We describe an infant with a unique pattern of midline defects, including anophthalmia, cleft lip and palate, macrocephaly, cutis aplasia, and micrognathia. CNS anomalies including massive hydrocephalus with destruction of most recognizable structures were observed. The infant also developed panhypopituitarism, diabetes insipidus, and a seizure disorder. We postulate that this patient could represent a more complex form of the Delleman syndrome or a new morphogenetic syndrome secondary to ventral induction with extension to the developmental fields of the first and second branchial arches. |
| Databáze: | OpenAIRE |
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