6533b821fe1ef96bd127be78

RESEARCH PRODUCT

A case of femoral-facial syndrome in a patient with autism spectrum disorders.

D. VecchioEmanuela SalzanoA. VecchioT. Di FilippoM. Roccella

subject

Craniofacial AbnormalitiesDiagnosis DifferentialMalePierre Robin SyndromeChild Development Disorders PervasiveChild PreschoolFemoral facial syndromeChild development disorders pervasive Diabetes gestational.HumansAbnormalities MultipleFemurSettore MED/39 - Neuropsichiatria Infantile

description

The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor development are almost always reported as normal or slightly altered in early childhood. We describe the first case of autism spectrum disorders (ASD) in a patient with FFS, emphasizing that this rare association could be one of many unrecognized underlying features.

yearjournalcountryeditionlanguage
2011-09-13Minerva pediatrica
https://pubmed.ncbi.nlm.nih.gov/21909070