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
References
Jul 1, 1992·American Journal of Medical Genetics·A VerloesL Koulischer
Dec 15, 1991·American Journal of Medical Genetics·M MuenkeE H Zackai
Mar 1, 1990·American Journal of Medical Genetics·M MünkeE H Zackai
Jan 1, 1988·American Journal of Medical Genetics. Supplement·H V Toriello
Nov 1, 1988·Clinical Genetics·M EdwardsG Turner
Apr 1, 1986·Journal of Medical Genetics·M Baraitser
Apr 1, 1980·Journal of Medical Genetics·V VáradiZ Papp
May 22, 1995·American Journal of Medical Genetics·V ShashiW G Wilson
Nov 1, 1994·American Journal of Medical Genetics·G CameraA Camera
Sep 1, 1994·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·P D WeyG S LaTrenta
Jun 1, 1994·American Journal of Medical Genetics·M J StephanC Goho
Sep 15, 1993·American Journal of Medical Genetics·R CleperM Frydman
Oct 1, 1993·Clinical Genetics·L E FigueraJ M Cantú
Nov 20, 1995·American Journal of Medical Genetics·G NeriM Genuardi
Apr 29, 1998·American Journal of Medical Genetics·B J DossW J Kupsky
Apr 5, 2000·American Journal of Medical Genetics·K HaugR König
Feb 15, 2001·American Journal of Medical Genetics·H PlauchuA Verloes
Apr 2, 2003·Human Molecular Genetics·Mitsuhiro Kato, William B Dobyns
Feb 26, 2004·American Journal of Medical Genetics. Part a·Joseph G GleesonWilliam B Dobyns
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
Dec 2, 2017·Birth Defects Research·Caroline AlbyTania Attié-Bitach