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

Authors
  • Belengeanu, V
  • Viskari, H
  • Tallila, J
  • Lahtela, J
  • Farcas, S
  • Andreescu, N
  • Stoian, M
  • Bohiltea, C L
  • Fryns, J P
Type
Published Article
Journal
Genetic counseling (Geneva, Switzerland)
Publication Date
Jan 01, 2011
Volume
22
Issue
3
Pages
293–304
Identifiers
PMID: 22029171
Source
Medline
License
Unknown

Abstract

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.

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