Femoral-facial syndrome with malformations in the central nervous system.
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.
Leal
Evelia
E
Centro de Investigación Biomédica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
Macías-Gómez
Nelly
N
Rodríguez
Lisa
L
Mercado
F Miguel
FM
Barros-Núñez
Patricio
P
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D003025:Clubfoot / Q000175:diagnosis; D005145:Face / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000196:embryology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D009421:Nervous System Malformations / Q000175:diagnosis*; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D011296:Prenatal Diagnosis; D018570:Risk Assessment; D013577:Syndrome; D014057:Tomography, X-Ray Computed