AI Article Synopsis
- The femoral hypoplasia-unusual facies syndrome (FFS) is a rare condition characterized by both femoral and facial abnormalities, often linked to maternal diabetes mellitus.
- This report details the second case of FFS with central nervous system (CNS) anomalies, such as corticosubcortical atrophy and partial agenesis of the corpus callosum.
- Despite these CNS defects, the patient's psychomotor development remains normal, suggesting that these neurological issues may be included in the broader range of FFS-related abnormalities.
Article Abstract
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. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum. The psychomotor development has been normal. We propose that the CNS defects observed in these patients are part of the spectrum of abnormalities in the FFS.
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| http://dx.doi.org/10.1016/s0899-7071(02)00496-5 | DOI Listing |
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