Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies
| Autor: | Z. Nazará, José Sánchez-Corona, D. Garcfa-Cruz, J. M. Cantú, A. Hernándes |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Heart Defects Congenital Male Adolescent Prominent forehead Exophthalmos Peculiar facies Short stature Paternal Age Intellectual Disability Genetics medicine Humans Abnormalities Multiple Hypertelorism Skeleton Genetics (clinical) Rib cage business.industry Syndrome Anatomy Middle Aged medicine.disease Mental deficiency Female medicine.symptom business Maternal Age Cutis laxa |
| Zdroj: | Clinical Genetics. 22:172-179 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1982.tb01431.x |
| Popis: | The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation. |
| Databáze: | OpenAIRE |
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