X-Chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of 'Paine syndrome'?
| Autor: | Lesný I, Rössler M, Brachfeld K, Prosková M, J. Hyánek, E. Seemanová |
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| Rok vydání: | 1973 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Microcephaly Birth weight Genes Recessive Biology Quadriplegia Epilepsy Intellectual Disability Reflex Intellectual disability Genetics medicine Humans Abnormalities Multiple Dermatoglyphics Renal Aminoacidurias Child Spastic tetraplegia Sex Chromosome Aberrations Genetics (clinical) Abdominal Muscles Arthrogryposis Infant Syndrome medicine.disease Pedigree nervous system diseases Muscle Spasticity medicine.symptom Reflex Abdominal |
| Zdroj: | Humangenetik. 20:113-117 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00284845 |
| Popis: | Two brothers (7 years of age and 8 months respectively) are reported. They both suffered from a combination of severe microcephaly, spastic tetraplegia, clonic epileptic fits, absent abdominal cutaneous reflexes and severe mental retardation. This syndrome shows an X-chromosomal mode of inheritance. Dermatoglyphic patterns were characteristic. There was no change in aminoacids in CSF and the birth weight was high (4000g, in contrast to the cases described by Warkany et al.). |
| Databáze: | OpenAIRE |
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