TY - JOUR T1 - Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. JF - Journal of Medical Genetics JO - J Med Genet SP - 88 LP - 95 DO - 10.1136/jmg.25.2.88 VL - 25 IS - 2 AU - M L Merrer AU - M L Briard AU - S Girard AU - N Mulliez AU - C Moraine AU - M C Imbert Y1 - 1988/02/01 UR - http://jmg.bmj.com/content/25/2/88.abstract N2 - 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. ER -