Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome.
In this report we describe a male patient with the interesting combination of a large congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Follow-up data from birth up to the age of 18 years revealed positive evolution with low to normal intelligence. The findings in the present patient, i.e. an Adams-Oliver syndrome associated with a severe neurological deficit, are best explained as resulting from interruption of the early embryonic blood supply.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Legius
E
E
Demaerel
P
P
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000196:embryology*; D000757:Anencephaly / Q000175:diagnosis; D002536:Cerebral Arteries / Q000002:abnormalities*; D003951:Diagnostic Errors; D004622:Embryo, Mammalian / Q000098:blood supply*; D005532:Foot Deformities, Congenital / Q000196:embryology*; D006228:Hand Deformities, Congenital / Q000196:embryology*; D006429:Hemiplegia / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012535:Scalp / Q000002:abnormalities* / Q000196:embryology; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome