Orofaciodigital syndrome with cerebral dysgenesis

American Journal of Medical Genetics. Part a
Gaetan LescaJocelyne Attia-Sobol

Abstract

Orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a fetus presenting with some features of the OFDs but with additional global cerebral dysgenesis. Ultrasonography at 19 weeks of pregnancy disclosed hypoplasia of the cerebral hemispheres with a large intrahemispheric cyst, as well as dysmorphic facial features and brachy-syndactyly IV-V. Fetal brain MRI confirmed these features and disclosed additional morphological anomalies: Agenesis of the vermis, complete agenesis of the corpus callosum, pachygyria of the left hemisphere. Pathological examination showed a disproportionate fetus with large head and short limbs. Dysmorphic features included hypertelorism, broad nasal root, long philtrum, severe micrognathia, microstomia, cleft palate, and lobulated tongue. Radiographs showed distal malformations of the four limbs. Neuropathological examination showed a severe disturbance of the architecture of both hemispheres, more severe on the right side, with four cystic structures located between the hemispheres. Olfactory stalks, mammillary bodies, and midline structures were absent. Cerebellum and brainstem were hypoplastic. On the right hemisphere as...Continue Reading

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Citations

Nov 28, 2009·AJNR. American Journal of Neuroradiology·O A GlennD Xu
Jan 29, 2011·American Journal of Medical Genetics. Part a·Christel Thauvin-RobinetLaurence Faivre
May 3, 2006·Current Opinion in Genetics & Development·Brunella Franco, Andrea Ballabio
Jan 16, 2007·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G MalingerT Lerman-Sagie

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