Electronic letters
A new case of exomphalos, short limbs, and macrogonadism syndrome
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EDITOR
A novel lethal syndrome of exomphalos,
short limbs, macrogonadism, enlarged and irregular metaphyses, and
dysmorphic features has been recently described in
fetuses.1 Interestingly, in all cases, histological
examination showed diffuse endocrine hyperplasia, suggesting overlap
with Beckwith-Wiedemann syndrome. Here we report a new case of this
lethal syndrome in a male fetus diagnosed at 17 weeks of gestation.
The mother, gravida 1, para 0, was first referred at 12 weeks of
gestation after ultrasound detection of a large exomphalos. The family
history was unremarkable apart from paternal sterility and the
pregnancy was achieved with ICSI. A new ultrasound survey performed at
17 weeks showed fetal macrosomy with short limbs, an enlarged
hyperechogenic pancreas, and dysplastic kidneys in addition to
exomphalos. Amniotic cell karyotype was normal (46,XY). Because
Beckwith-Wiedemann syndrome was suspected, in situ hybridisation was
performed and ruled out a rearrangement of chromosome 11p15 using the
telomeric probe (D11S2071, Cytocell). At 22 weeks 5 days,
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