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Gómez-López-Hernández syndrome in a Japanese patient: a case report.
Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J. Kobayashi Y, et al. Brain Dev. 2015 Mar;37(3):356-8. doi: 10.1016/j.braindev.2014.05.002. Epub 2014 May 21. Brain Dev. 2015. PMID: 24856766
We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and midface retrusion, and a short stature. This female patient had also exhibited fever-induced convul …
We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hype …
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.
Schell-Apacik CC, Cohen M, Vojta S, Ertl-Wagner B, Klopocki E, Heinrich U, von Voss H. Schell-Apacik CC, et al. Eur J Pediatr. 2008 Jan;167(1):123-6. doi: 10.1007/s00431-007-0478-z. Epub 2007 May 5. Eur J Pediatr. 2008. PMID: 17483961
We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, mental retardation and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears …
We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opaci …
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.
Abdel-Salam GM, Abdel-Hadi S, Thomas MM, Eid OM, Ali MM, Afifi HH. Abdel-Salam GM, et al. Am J Med Genet A. 2014 Feb;164A(2):480-3. doi: 10.1002/ajmg.a.36276. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311025
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 al …
Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. …
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.
Graul-Neumann LM, Bach A, Albani M, Ringe H, Weimann A, Kress W, Hiort O, Bartsch O. Graul-Neumann LM, et al. Am J Med Genet A. 2009 Jul;149A(7):1487-93. doi: 10.1002/ajmg.a.32889. Am J Med Genet A. 2009. PMID: 19530187
He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia. ...Postmortem molecular studies of G …
He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital hypothy …