title: Femoral-facial syndrome in an infant of a diabetic mother.
abstract: Femoral-facial syndrome (FFS) is a very rare multiple congenital anomaly syndrome. The authors describe a case of FFS in a 2-day-old infant of a diabetic mother. The phenotypic features include bilateral symmetrical femoral involvement with completely aplastic right-sided femur, severely hypoplastic left femur and unusual facial dysmorphic features without other skeleton/spinal and genitourinary anomalies. Cases of FFS need to be carefully evaluated because of the similarity between FFS and caudal dysgenesis, a condition frequently related to maternal diabetes and with other syndromes characterised by femoral hypoplasia and associated anomalies, which can pose a diagnostic challenge.
authors.affiliation: Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia.
authors.forename: Saleem
authors.initials: S
authors.lastname: Ahmed
authors.affiliation: Faculty of Medicine, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Saad Abdullah
authors.initials: SA
authors.lastname: Alsaedi
authors.affiliation: Faculty of Medicine, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Heidi
authors.initials: H
authors.lastname: Al-Wassia
authors.affiliation: Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia.
authors.forename: Jumana Yousef
authors.initials: JY
authors.lastname: Al-Aama
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003920:Diabetes Mellitus / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009035:Mothers; D010855:Pierre Robin Syndrome / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000235:genetics*