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Abnormalities, Multiple/ diagnosis/ genetics
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This case report discusses a case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome.
Abstract:
A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome. more...
International Classification:
Syndrome
Categories:
Jacobsen syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 16 Page: 177-9 July 2007
P. Foley; F. McAuliffe; M. Mullarkey; W. Reardon
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