Acrania and alobar holoprosencephaly

Fabrice Cuillier, MD, L Vinatier, MD

Department of Gynecology, Felix Guyon Hospital, 97400 Saint- Denis, Ile de la Reunion, France; tel: 0262 90 55 22; fax : 0262 90 77 30;

Case report

We present the case of a 25-year-old woman, with unremarkable history, scanned for the first time at 12 weeks of gestation. The 12-week sonogram of the fetus revealed an acrania combined with alobar holoprosencephaly and hypertelorism. The nuchal translucency was normal (1 mm). An amniocentesis revealed normal karyotype. The patient opted for interruption of pregnancy and the anomalies were confirmed.

Images 1 and 2: 2D sonography; 12 weeks of pregnancy; acranial head with alobar holoprosencephaly (left) and hypertelorism (right).

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Images 3 and 4: 2D sonography; 12 weeks of pregnancy; acranial head with fused thalami in the middle basal part of monoventricle (left); and monoventricle presented with alobar holoprosencephaly (right).

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Images 1 and 2: 2D sonography; 12 weeks of pregnancy; Sagittal plane showing normal nuchal translucency and acrania with monoventricle (left); and 3D image showing fetal head with monoventricle (right).

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Images 1 and 2: Pathological specimen showing acrania and hypertelorism.

 

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