Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria
Eric T. Rush, Margaret P. Adam, Robin D. Clark, Cynthia Curry, Julianne E. Hartmann, William B. Dobyns, Ann Haskins Olney
Gomez-Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhombocephalosynapsis, trigeminal anesthesia, and bilateral parietal or parieto-occipital alopecia. Rhombencephalosynapsis consists of agenesis of the cerebellar vermis, fusion of the cerebellar hemispheres, and the dentate nuclei. The gene or genes responsible for GLHS remain unknown. Alopecia is seen in all previously reported cases of GLHS. Additional craniofacial findings such as low-set and posteriorly rotated ears, midface retrusion, craniosynostosis, and brachyturricephaly are also very common in this syndrome. Trigeminal anesthesia, reported in the original three patients, is seen in just over half of reported patients. Most patients with GLHS have motor delays, intellectual disability, and hypotonia. Unusual stereotypic movements of the head are seen in many patients with GLHS. Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common. We propose that rhombencephalosynapsis and scalp alopecia are necessary, but by themselves not sufficient, for a diagnosis of GLHS. Additional findings of trigeminal anesthesia or one of two major craniofacial findings (brachycephaly and/or turricephaly or midface retrusion) are sufficient to make a diagnosis of GLHS. Additional categories of probable and possible GLHS are proposed for patients whose examination may be compatible with a diagnosis of GLHS, but CNS imaging has not yet been obtained.
American Journal of Medical Genetics, Part A
https://doi.org/10.1002/ajmg.a.35817
Cerebello-trigeminal-dermal dysplasia
Gomez-Lopez-Hernandez
Rhombencephalosynapsis
Trigeminal anesthesia
10.1002/ajmg.a.35817
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Gomez Lopez Hernandez syndrome Medicine & Life Sciences 100%
Alopecia Medicine & Life Sciences 15%
Craniosynostoses Medicine & Life Sciences 12%
Anesthesia Medicine & Life Sciences 11%
Agenesis of Cerebellar Vermis Medicine & Life Sciences 7%
Neurocutaneous Syndromes Medicine & Life Sciences 6%
Cerebellar Nuclei Medicine & Life Sciences 6%
Head Movements Medicine & Life Sciences 6%
Rush, E. T., Adam, M. P., Clark, R. D., Curry, C., Hartmann, J. E., Dobyns, W. B., & Olney, A. H. (2013). Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. American Journal of Medical Genetics, Part A, 161(2), 320-326. https://doi.org/10.1002/ajmg.a.35817
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. / Rush, Eric T.; Adam, Margaret P.; Clark, Robin D. et al.
In: American Journal of Medical Genetics, Part A, Vol. 161, No. 2, 02.2013, p. 320-326.
Rush, ET, Adam, MP, Clark, RD, Curry, C, Hartmann, JE, Dobyns, WB & Olney, AH 2013, 'Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria', American Journal of Medical Genetics, Part A, vol. 161, no. 2, pp. 320-326. https://doi.org/10.1002/ajmg.a.35817
Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB et al. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. American Journal of Medical Genetics, Part A. 2013 Feb;161(2):320-326. doi: 10.1002/ajmg.a.35817
Rush, Eric T. ; Adam, Margaret P. ; Clark, Robin D. et al. / Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. In: American Journal of Medical Genetics, Part A. 2013 ; Vol. 161, No. 2. pp. 320-326.
@article{c33f3f0927964c4eadaf9ba3e2cc148c,
title = "Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria",
abstract = "Gomez-Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhombocephalosynapsis, trigeminal anesthesia, and bilateral parietal or parieto-occipital alopecia. Rhombencephalosynapsis consists of agenesis of the cerebellar vermis, fusion of the cerebellar hemispheres, and the dentate nuclei. The gene or genes responsible for GLHS remain unknown. Alopecia is seen in all previously reported cases of GLHS. Additional craniofacial findings such as low-set and posteriorly rotated ears, midface retrusion, craniosynostosis, and brachyturricephaly are also very common in this syndrome. Trigeminal anesthesia, reported in the original three patients, is seen in just over half of reported patients. Most patients with GLHS have motor delays, intellectual disability, and hypotonia. Unusual stereotypic movements of the head are seen in many patients with GLHS. Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common. We propose that rhombencephalosynapsis and scalp alopecia are necessary, but by themselves not sufficient, for a diagnosis of GLHS. Additional findings of trigeminal anesthesia or one of two major craniofacial findings (brachycephaly and/or turricephaly or midface retrusion) are sufficient to make a diagnosis of GLHS. Additional categories of probable and possible GLHS are proposed for patients whose examination may be compatible with a diagnosis of GLHS, but CNS imaging has not yet been obtained.",
keywords = "Alopecia, Cerebello-trigeminal-dermal dysplasia, Craniosynostosis, Gomez-Lopez-Hernandez, Rhombencephalosynapsis, Trigeminal anesthesia",
author = "Rush, {Eric T.} and Adam, {Margaret P.} and Clark, {Robin D.} and Cynthia Curry and Hartmann, {Julianne E.} and Dobyns, {William B.} and Olney, {Ann Haskins}",
doi = "10.1002/ajmg.a.35817",
journal = "American Journal of Medical Genetics, Part A",
T1 - Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria
AU - Rush, Eric T.
AU - Adam, Margaret P.
AU - Clark, Robin D.
AU - Curry, Cynthia
AU - Hartmann, Julianne E.
AU - Dobyns, William B.
AU - Olney, Ann Haskins
N2 - Gomez-Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhombocephalosynapsis, trigeminal anesthesia, and bilateral parietal or parieto-occipital alopecia. Rhombencephalosynapsis consists of agenesis of the cerebellar vermis, fusion of the cerebellar hemispheres, and the dentate nuclei. The gene or genes responsible for GLHS remain unknown. Alopecia is seen in all previously reported cases of GLHS. Additional craniofacial findings such as low-set and posteriorly rotated ears, midface retrusion, craniosynostosis, and brachyturricephaly are also very common in this syndrome. Trigeminal anesthesia, reported in the original three patients, is seen in just over half of reported patients. Most patients with GLHS have motor delays, intellectual disability, and hypotonia. Unusual stereotypic movements of the head are seen in many patients with GLHS. Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common. We propose that rhombencephalosynapsis and scalp alopecia are necessary, but by themselves not sufficient, for a diagnosis of GLHS. Additional findings of trigeminal anesthesia or one of two major craniofacial findings (brachycephaly and/or turricephaly or midface retrusion) are sufficient to make a diagnosis of GLHS. Additional categories of probable and possible GLHS are proposed for patients whose examination may be compatible with a diagnosis of GLHS, but CNS imaging has not yet been obtained.
AB - Gomez-Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhombocephalosynapsis, trigeminal anesthesia, and bilateral parietal or parieto-occipital alopecia. Rhombencephalosynapsis consists of agenesis of the cerebellar vermis, fusion of the cerebellar hemispheres, and the dentate nuclei. The gene or genes responsible for GLHS remain unknown. Alopecia is seen in all previously reported cases of GLHS. Additional craniofacial findings such as low-set and posteriorly rotated ears, midface retrusion, craniosynostosis, and brachyturricephaly are also very common in this syndrome. Trigeminal anesthesia, reported in the original three patients, is seen in just over half of reported patients. Most patients with GLHS have motor delays, intellectual disability, and hypotonia. Unusual stereotypic movements of the head are seen in many patients with GLHS. Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common. We propose that rhombencephalosynapsis and scalp alopecia are necessary, but by themselves not sufficient, for a diagnosis of GLHS. Additional findings of trigeminal anesthesia or one of two major craniofacial findings (brachycephaly and/or turricephaly or midface retrusion) are sufficient to make a diagnosis of GLHS. Additional categories of probable and possible GLHS are proposed for patients whose examination may be compatible with a diagnosis of GLHS, but CNS imaging has not yet been obtained.
KW - Alopecia
KW - Cerebello-trigeminal-dermal dysplasia
KW - Craniosynostosis
KW - Gomez-Lopez-Hernandez
KW - Rhombencephalosynapsis
KW - Trigeminal anesthesia
U2 - 10.1002/ajmg.a.35817
DO - 10.1002/ajmg.a.35817
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A