Microlissencephaly.
An inbred Arab family with three neonates affected by microlissencephaly syndrome is reported. Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the brainstem and cerebellum. All three neonates had microcephaly, arthrogryposis multiplex congenita, and micropenis. The presence of three affected newborn infants in a consanguineous family suggests an autosomal-recessive mode of inheritance of this syndrome. The spectrum of microlissencephaly syndrome is reviewed.
Sztriha
L
L
Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain.
Al-Gazali
L
L
Várady
E
E
Nork
M
M
Varughese
M
M
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D018912:Arabs; D001176:Arthrogryposis / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities; D003241:Consanguinity; D003337:Corpus Callosum / Q000473:pathology; D017809:Fatal Outcome; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome