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Hydrolethalus syndrome

 
National Institutes of Health

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Highly Cited
2009
Highly Cited
2009
Centrioles are subcellular organelles composed of a ninefold symmetric microtubule array that perform two important functions: (1… Expand
2005
2005
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental… Expand
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1999
1999
Hydrolethalus syndrome is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline… Expand
Highly Cited
1995
Highly Cited
1995
The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap… Expand
Review
1991
Review
1991
A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and… Expand
1991
1991
The three midline malformation complexes, the oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome, the… Expand
1990
1990
We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous… Expand
1987
1987
Two brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the… Expand
1983
1983
The prenatal diagnosis of hydrolethalus syndrome is presented on the basis of seven cases. The results demonstrate the primary… Expand
Highly Cited
1981
Highly Cited
1981
We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus… Expand