Gomez-Lopez-Hernandez syndrome
Last revised by Francis Fortin on 14 Oct 2022
Citation, DOI, disclosures and article data
Citation:
Di Muzio B, Fortin F, Rock P, et al. Gomez-Lopez-Hernandez syndrome. Reference article, Radiopaedia.org (Accessed on 19 Apr 2024) https://doi.org/10.53347/rID-37857
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37857
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Disclosures:
At the time the article was created Bruno Di Muzio had no recorded disclosures.
View Bruno Di Muzio's current disclosures
Last revised:
14 Oct 2022,
Francis Fortin
Disclosures:
At the time the article was last revised Francis Fortin had no financial relationships to ineligible companies to disclose.
View Francis Fortin's current disclosures
Revisions:
6 times, by
5 contributors -
see full revision history and disclosures
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Synonyms:
- Cerebellotrigeminal-dermal dysplasia
Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterized by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.
Epidemiology
There have only been 35 reported cases (c. 2017) of Gomez-Lopez-Hernandez syndrome 3.
History and etymology
It is named after Manuel Rodríguez Gómez (1928-2006) and Alejandro Lopez-Hernandez.
References
- 1. Tully HM, Dempsey JC, Ishak GE et-al. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am. J. Med. Genet. A. 2012;158A (10): 2393-406. doi:10.1002/ajmg.a.35561 - Free text at pubmed - Pubmed citation
- 2. Mattos VF, Graziadio C, Machado Rosa RF et-al. Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?. Pediatr. Neurol. 2014;50 (6): 612-5. doi:10.1016/j.pediatrneurol.2014.01.035 - Pubmed citation
- 3. Choudhary A, Minocha P, Sitaraman S. Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent. (2017) Intractable & rare diseases research. 6 (1): 58-60. doi:10.5582/irdr.2016.01074 - Pubmed
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