Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 1988 Feb;25(2):88-95.
doi: 10.1136/jmg.25.2.88.

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome

M L Merrer  1 , M L Briard, S Girard, N Mulliez, C Moraine, M C Imbert
Affiliations
Review

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome

M L Merrer et al. J Med Genet. 1988 Feb.

Abstract

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.

PubMed Disclaimer

References

    1. J Pediatr. 1966 Sep;69(3):457-9 - PubMed
    1. J Pediatr. 1968 Jun;72(6):859-61 - PubMed
    1. Ann Pediatr (Paris). 1977 Dec;24(12):843-51 - PubMed
    1. J Pediatr. 1965 Jun;66:1049-54 - PubMed
    1. J Pediatr. 1964 Feb;64:210-7 - PubMed