The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
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.
Farag
T I
TI
Kuwait Medical Genetics Centre, Maternity Hospital, Sulibikhat.
al-Awadi
S A
SA
Marafie
M J
MJ
Bastaki
L
L
al-Othman
S A
SA
Mohammed
F M
FM
AlSuliman
I S
IS
Murthy
D S
DS
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