Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
| Autor: | Dov Inbar, Rachel Straussberg, Vered Shkalim, Lina Basel-Vanagaite, Walid Kaadan, Liat Ben-Sira |
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| Rok vydání: | 2011 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Microcephaly Clubfoot Genetic syndromes Genetic Condition Corpus callosum Genetics medicine Deformity Humans Abnormalities Multiple Agenesis of the corpus callosum Genetics (clinical) business.industry Infant Newborn Syndrome Anatomy medicine.disease Magnetic Resonance Imaging Pedigree Agenesis Female Agenesis of Corpus Callosum medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics Part A. 155:1060-1065 |
| ISSN: | 1552-4825 |
| Popis: | Clubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition. |
| Databáze: | OpenAIRE |
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