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 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.
Department of Medical Genetics, University of Medicine and Pharmacy "Victor Babes", Timisoara, Romania. belvtim@yahoo.com
V
V
Belengeanu
H
H
Viskari
J
J
Tallila
J
J
Lahtela
S
S
Farcas
N
N
Andreescu
M
M
Stoian
C L
CL
Bohiltea
J P
JP
Fryns
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003025:Clubfoot / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D017809:Fatal Outcome; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000151:congenital / Q000235:genetics; D008297:Male; D017689:Polydactyly / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D012383:Romania; D013577:Syndrome
C505472:HYLS1 protein, human; D011506:Proteins