Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance
| Autor: | Joe J. Hoo, Kathleen A. Kapp-Simon, Margaret Chao, Beverly R. Rollnick |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Male
medicine.medical_specialty Pathology Central nervous system Microphthalmia Germline mutation Internal medicine Ectoderm medicine Humans Cyst Eye Abnormalities Genetics (clinical) Skin business.industry Infant Newborn Brain Syndrome medicine.disease Oculocerebrocutaneous syndrome Magnetic Resonance Imaging Endocrinology medicine.anatomical_structure Recien nacido Delleman syndrome Psychomotor Disorders Mild psychomotor delay business |
| Zdroj: | American Journal of Medical Genetics. 40:290-293 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320400308 |
| Popis: | We present a patient with oculocerebrocutaneous syndrome. The boy shows only mild psychomotor delay in spite of rather severe appearing anomalies of the central nervous system. A primarily unilateral involvement of this syndrome is emphasized. A postzygotic/somatic mutation resulting in a mosaic state might account for the primarily ectodermal involvement, the unilateral predominance, and the sporadic nature of this syndrome. An alternative hypothesis of an environmental factor might also explain the clinical manifestations of the syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text