title: Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
abstract: A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.
authors.affiliation: Medical Genetics Centre, Maternity Hospital, Kuwait.
authors.forename: M A
authors.initials: MA
authors.lastname: Sabry
authors.forename: D
authors.initials: D
authors.lastname: Obenbergerova
authors.forename: R
authors.initials: R
authors.lastname: Al-Sawan
authors.forename: Q A
authors.initials: QA
authors.lastname: Saleh
authors.forename: S
authors.initials: S
authors.lastname: Farah
authors.forename: S A
authors.initials: SA
authors.lastname: Al-Awadi
authors.forename: T I
authors.initials: TI
authors.lastname: Farag
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000209:etiology; D018912:Arabs; D001842:Bone and Bones / Q000002:abnormalities; D003456:Cryptorchidism / Q000209:etiology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000002:abnormalities*; D017689:Polydactyly / Q000209:etiology; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D013977:Tibia / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities*