1.
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (2): 251-254
em Inglês
| IMEMR
| ID: emr-76565
RESUMO
The femoral hypoplasia-unusual facies syndrome [FFS] is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. Autosomal dominant inheritance was described in few cases. We report a four-year old male with complete absence of both femora, not associated with other congenital anomalies except bilateral undescended testes