Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
| Autor: | Nitaya Suwanwela, Tayard Desudchit, Vorasuk Shotelersuk |
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| Rok vydání: | 2002 |
| Předmět: |
Male
medicine.medical_specialty Pathology Microcephaly genetic structures Dwarfism Cataract Atrophy Cerebellum Intellectual Disability Internal medicine medicine Humans Abnormalities Multiple Child Growth Disorders Genetics (clinical) Cerebral Cortex Family Health Arthrogryposis business.industry Cortical dysplasia medicine.disease Osteochondrodysplasia eye diseases Endocrinology Cerebellar cortex Osteoporosis Female Joints Cerebellar atrophy medicine.symptom business |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.a.10067 |
| Popis: | We describe two sibs with postnatal-onset growth deficiency, microcephaly, cataract, prominent supraorbital ridge, large joint contractures, severe osteoporosis, cortical dysplasia, cerebellar atrophy, and mental retardation. The combination appears to constitute a previously undescribed syndrome inherited in an autosomal recessive pattern. |
| Databáze: | OpenAIRE |
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