title: Femoral-facial syndrome with malformations in the central nervous system.
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.
authors.affiliation: Centro de Investigación Biomédica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
authors.forename: Evelia
authors.initials: E
authors.lastname: Leal
authors.forename: Nelly
authors.initials: N
authors.lastname: Macías-Gómez
authors.forename: Lisa
authors.initials: L
authors.lastname: Rodríguez
authors.forename: F Miguel
authors.initials: FM
authors.lastname: Mercado
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros-Núñez
mesh_terms: 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