Johanson-Blizzard syndrome in a large inbred kindred with three involved members
| Autor: | Nadia A. Sakati, William L. Nyhan, Mohamed K. Mardini, M. Ghandour |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Microcephaly medicine.medical_specialty Malabsorption Chromosome Disorders Genes Recessive Consanguinity Nose Anus Imperforate Intellectual Disability Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Chromosome Aberrations business.industry Infant Syndrome medicine.disease Dermatology Pedigree Johanson–Blizzard syndrome Skin Abnormalities business Imperforate anus Aplasia cutis |
| Zdroj: | Clinical Genetics. 14:247-250 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1978.tb02141.x |
| Popis: | An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson-Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene. |
| Databáze: | OpenAIRE |
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