Hydrolethalus

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Broad thumb

Increased thumb width without increased dorso-ventral dimension.


Total: 1

                       


(per page)
PMID (PMCID)
8205324
 FEMALE Adult
A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome.
Seller MJ, Pal K, Docherty Z, Nash TG.
Clin Dysmorphol. 1994;3(1):35-9.
A fetus with multiple abnormalities phenotypically similar to hydrolethalus syndrome, but also with broad thumbs, was found to have a de novo interstitial deletion of the terminal segment of the long arm of chromosome 7 and a small rearrangement within the proximal half of the p arm of the same chromosome.