A new lethal syndrome of exomphalos, short limbs, and macrogonadism

• Published in: Journal of medical genetics Vol. 36; no. 2; pp. 131 - 136
• Main Authors: Faivre, Laurence, Delezoide, Anne-Lise, Narcy, Françoise, Razavi, Féréchté, Bouvier, Raymonde, Cormier-Daire, Valérie, Briard, Marie-Louise, Lyonnet, Stanislas, Vekemans, Michel, Munnich, Arnold, Le Merrer, Martine
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.02.1999; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: abnormal metaphyses; Abnormalities, Multiple - genetics; Abortion, Spontaneous; Age; Biological and medical sciences; Bones; Complex syndromes; Diagnosis, Differential; exomphalos; Female; Fetuses; Gonads - abnormalities; Health risk assessment; Hernia, Umbilical - diagnosis; Hernia, Umbilical - genetics; Humans; Inheritances; Kidney - abnormalities; Kidney - pathology; Kidneys; Limb Deformities, Congenital - diagnostic imaging; Limb Deformities, Congenital - genetics; Male; MCA syndrome; Medical genetics; Medical sciences; Original; Parents & parenting; Pedigree; Pregnancy; Radiography; Recurrence; short limbs; Syndrome; Ultrasonography, Prenatal; Vertebrae; Diseases of the osteoarticular system; Dysmorphic facies; Lethal character; Metaphysis; Genital diseases; Gonad; Limb; Fetus; Complex syndrome; Omphalocele; Human; New syndrome; Radiodiagnosis; Stomatology; Beckwith Wiedemann syndrome; Family study; Exploration; Congenital disease; Differential diagnostic; Case study; Radiography; Pathology; Phenotype; Malformation; Abdominal disease; Abdominal wall
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.36.2.131

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.