Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.
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.
Merrer
M L
ML
Clinique et Unité de Recherches de Génétique Médicale INSERM U.12, Hôpital des Enfants Malades, Paris, France.
Briard
M L
ML
Girard
S
S
Mulliez
N
N
Moraine
C
C
Imbert
M C
MC
D000015:Abnormalities, Multiple / Q000145:classification / Q000473:pathology*; D012734:Disorders of Sex Development / Q000473:pathology; D004392:Dwarfism / Q000473:pathology*; D005183:Failure to Thrive / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013576:Syndactyly / Q000473:pathology*; D013577:Syndrome