title: The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
abstract: A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.
authors.affiliation: Kuwait Medical Genetics Centre, Maternity Hospital, Sulibikhat.
authors.forename: T I
authors.initials: TI
authors.lastname: Farag
authors.forename: S A
authors.initials: SA
authors.lastname: al-Awadi
authors.forename: M J
authors.initials: MJ
authors.lastname: Marafie
authors.forename: L
authors.initials: L
authors.lastname: Bastaki
authors.forename: S A
authors.initials: SA
authors.lastname: al-Othman
authors.forename: F M
authors.initials: FM
authors.lastname: Mohammed
authors.forename: I S
authors.initials: IS
authors.lastname: AlSuliman
authors.forename: D S
authors.initials: DS
authors.lastname: Murthy
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007493:Iraq; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D010384:Pelvic Bones / Q000002:abnormalities*; D013577:Syndrome