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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone
American Journal of Medical Genetics, Part A, Volume 164, No. 2, Year 2014
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Description
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. © 2013 Wiley Periodicals, Inc.
Authors & Co-Authors
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Abdel-Hadi, Sawsan
Egypt, Cairo
Faculty of Medicine
Thomas, Manal M.
Egypt, Giza
National Research Centre
Eid, Ola M.
Egypt, Giza
National Research Centre
Aly, Manal Mouhamed
Egypt, Giza
National Research Centre
Afifi, Hanan Hosny
Egypt, Giza
National Research Centre
Statistics
Citations: 7
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1002/ajmg.a.36276
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Health System And Policy
Participants Gender
Male