Cortical blindness, growth and psychomotor retardation and postaxial Polydactyly: A probably distinct autosomal recessive syndrome
| Autor: | R. Fragoso, Garcia-Esquivel L, Miguel Angel Enríquez‐Guerra, Z. Nazará, M. C. Reynoso, José María Cantú, Miguel Bracamontes Anzar, Alejandro Hernández |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Postaxial polydactyly medicine.medical_specialty Pediatrics Foot Deformities Congenital Limb Deformities Congenital Genes Recessive Consanguinity Blindness Internal medicine Genetics medicine Humans Growth Disorders Genetics (clinical) Psychomotor retardation Polydactyly Cortical blindness business.industry Infant Syndrome medicine.disease Pedigree Endocrinology Female Psychomotor Disorders medicine.symptom Differential diagnosis business Psychomotor disorder Hand Deformities Congenital |
| Zdroj: | Clinical Genetics. 28:251-254 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1985.tb00395.x |
| Popis: | A 14-month-old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance. |
| Databáze: | OpenAIRE |
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