A new lethal syndrome of exomphalos, short limbs, and macrogonadism
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 p...
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Published in | Journal of medical genetics Vol. 36; no. 2; pp. 131 - 136 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
BMJ Publishing Group Ltd
01.02.1999
BMJ BMJ Publishing Group LTD BMJ Group |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | href:jmedgenet-36-131.pdf Dr Le Merrer. istex:DB5A678A2193AC248A976938639D2E35F9FC760D PMID:10051012 ark:/67375/NVC-93G7K9BD-B local:jmedgenet;36/2/131 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0022-2593 1468-6244 |
DOI: | 10.1136/jmg.36.2.131 |