Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.
This report concerns two sibs from a consanguineous Sudanese family with microgastria-limb reduction defect associated with hydrocephalus and agenesis of corpus callosum. We suggest that these cases together with other previously reported cases of central nervous system (CNS) anomalies associated with microgastria-limb reduction defect could represent an autosomal recessive syndrome differing from the classical microgastria-limb reduction defect by its severity, presence of CNS anomalies and its pattern of inheritance.
al-Gazali
L I
LI
Department of Paediatrics, Faculty of Medicine, UAE University, Al Ain, United Arab Emirates. algazali@hotmail.com
Bakir
M
M
Dawodu
A
A
Nath
R
R
al-Tatari
H M
HM
Gerami
M
M
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D003241:Consanguinity; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D013270:Stomach / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed