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A new case of exomphalos, short limbs, and macrogonadism syndrome
  1. G VIOT*,
  2. E PANNIER*,
  3. L FAIVRE,
  4. J TANTAU*,
  6. J M DUPONT*,
  8. M C AUBRY*,
  10. D CABROL*
  1. *Centre Pluridisciplinaire de Diagnostic Prénatal, Groupe Hospitalier Cochin-Saint Vincent de Paul-APHP, Université René Descartes Paris V, Paris, France
  2. †Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France
  3. ‡Service de Neuropathologie, Hôpital Sainte-Anne, Paris, France
  1. Dr Viot, Maternité Port-Royal, Hôpital Cochin, 123 Bd de Port-Royal, 75014 Paris, France,geraldine.viot{at}

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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, ultrasound survey …

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