title: Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.
abstract: Rhombencephalosynapsis (RES) is a rare hindbrain malformation that could occur in isolation or as a part of a syndrome for example, Gómez-López-Hernández syndrome (GLH) or VACTERL-H. We identified male patient with severe RES. Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH. Interestingly, he additionally had bilateral bipartite parietal bone (BPB) that is an extremely rare anomaly of the parietal sutures. This is the first co-occurrence of this rare anomaly with GLH. We believe the presence of this unique finding could represent an important clue for understanding the pathogenesis of this malformation.
authors: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors: Ghada M H
authors: GM
authors: Abdel-Salam
authors: Sawsan
authors: S
authors: Abdel-Hadi
authors: Manal M
authors: MM
authors: Thomas
authors: Ola M
authors: OM
authors: Eid
authors: Manal M
authors: MM
authors: Ali
authors: Hanan H
authors: HH
authors: Afifi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000505:Alopecia / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D019066:Facies; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D010294:Parietal Bone / Q000002:abnormalities; D012249:Rhombencephalon / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities; D014057:Tomography, X-Ray Computed
keywords: Gómez-López- Hernández syndrome; bipartite parietal bone; cerebellar malformation; developmental brain malformations; rhombencephalosynapsis