| Autor: |
Karadimas, C., Sifakis, S., Valsamopoulos, P., Makatsoris, C., Velissariou, V., Nasioulas, G., Petersen, M. B., Koumantakis, E., Hatzaki, A. |
| Zdroj: |
American Journal of Medical Genetics. Part A; May 2006, Vol. 140 Issue: 9 p998-1003, 6p |
| Abstrakt: |
Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH). Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are present in a significant proportion of HCH patients. Reports of prenatal diagnosis of HCH are very rare and the phenotype/genotype correlation in these patients is poor. Here we present two sporadic cases with second trimester ultrasound findings consistent with a diagnosis of a non‐lethal skeletal dysplasia. Ultrasound evaluation after 23 weeks of gestation showed a decreased rate of development of the femora (femur length
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| Databáze: |
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