Autosomal Recessive Microcephaly with Severe Psychomotor Retardation
| Autor: | J. Wilson, E. M. Brett, Michael Baraitser, Godfrey C, Ingrid E. Scheffer |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Male medicine.medical_specialty Microcephaly Pediatrics Adolescent Genetic counseling Chromosome Disorders Genes Recessive Genetic Counseling macromolecular substances Severe psychomotor retardation Consanguinity Intellectual Disability Internal medicine Diseases in Twins medicine Humans Spasticity Sibling Chromosome Aberrations Neurologic Examination Psychomotor retardation Autosomal recessive inheritance business.industry Brain Infant General Medicine medicine.disease Endocrinology Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) Atrophy medicine.symptom business Neurological impairment |
| Zdroj: | Neuropediatrics. 23:53-56 |
| ISSN: | 1439-1899 0174-304X |
| DOI: | 10.1055/s-2008-1071313 |
| Popis: | Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcephaly with spasticity and severe mental retardation may also have autosomal recessive inheritance. Furthermore this severely affected group of patients forms a significant proportion of cases of genetic microcephaly. We looked for specific morphological features to identify these forms of genetic microcephaly for genetic counselling, but failed to find characteristic abnormalities among our group of patients. |
| Databáze: | OpenAIRE |
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