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Hydrolethalus syndrome

*Gene map locus 11q24.2
HLS
HLS1
Hydrolethalus syndrome 1
[Clinical features: lethal multiple midline malformation syndrome; external hydrocephaly with absent midline structures of the brain; polyhydramnions; micrognathia; polydactyly]
[Inheritance: autosomal recessive]

 
Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25
Increased nuchal translucency in a 13-week chromosomally normal fetus with severe micrognathia
 
American Journal of Human Genetics
Diploma in Fetal Medicine Series
 


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Edited by Aldo Campana, April 18, 2014