1.
Egyptian Journal of Medical Human Genetics [The]. 2007; 8 (1): 111-114
em Inglês
| IMEMR
| ID: emr-82401
RESUMO
Acrocallosal syndrome [ACS] is a rare autosomal recessive genetic disorder with hypoplasia / agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. In this paper we present a three month old girl with typical features of this syndrome.
Assuntos
Humanos , Feminino , Anormalidades Craniofaciais , Deficiência Intelectual , Ecocardiografia , Corpo Caloso , Tomografia Computadorizada por Raios X , Imageamento por Ressonância Magnética , Análise Citogenética
2.
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