Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient

Hydrolethalus syndrome is a severe lethal disorder most commonly found in Finland. We present a lethal case of complex congenital malformation in a Romanian family who showed multiple signs described in hydrolethalus syndrome. Our case presented the specific characteristics: macrocephaly, midline cl...

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Bibliographic Details
Published in:	Genetic counseling Vol. 22; no. 3; p. 293
Main Authors:	Belengeanu, V, Viskari, H, Tallila, J, Lahtela, J, Farcas, S, Andreescu, N, Stoian, M, Bohiltea, C L, Fryns, J P
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2011
Subjects:	Abnormalities, Multiple - genetics Brain - abnormalities Cleft Lip - genetics Cleft Palate - genetics Clubfoot - genetics Craniofacial Abnormalities - genetics Fatal Outcome Hand Deformities, Congenital - genetics Heart Defects, Congenital - genetics Humans Hydrocephalus - genetics Infant, Newborn Kidney Diseases, Cystic - congenital Kidney Diseases, Cystic - genetics Male Polydactyly - genetics Proteins - genetics Romania Syndrome Romania
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Summary:	Hydrolethalus syndrome is a severe lethal disorder most commonly found in Finland. We present a lethal case of complex congenital malformation in a Romanian family who showed multiple signs described in hydrolethalus syndrome. Our case presented the specific characteristics: macrocephaly, midline cleft-lip, cleft palate, polydactyly of both hands and feet but without occipitoschisis, considered as the pathognomonic sign of the syndrome. Sequencing analysis of HYLS1 did not identify the point mutation present in the Finnish cases or other mutations in this gene.
ISSN:	1015-8146