TY - JOUR T1 - A new lethal syndrome of exomphalos, short limbs, and macrogonadism JF - Journal of Medical Genetics JO - J Med Genet SP - 131 LP - 136 DO - 10.1136/jmg.36.2.131 VL - 36 IS - 2 AU - Laurence Faivre AU - Anne-Lise Delezoide AU - Françoise Narcy AU - Féréchté Razavi AU - Raymonde Bouvier AU - Valérie Cormier-Daire AU - Marie-Louise Briard AU - Stanislas Lyonnet AU - Michel Vekemans AU - Arnold Munnich AU - Martine Le Merrer Y1 - 1999/02/01 UR - http://jmg.bmj.com/content/36/2/131.abstract N2 - We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. Xrays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, and Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann syndrome, especially as no infracytogenetic deletion or uniparental disomy of chromosome 11 was found. ER -