Gómez–López-Hernández syndrome

Gómez-López-Hernández syndrome
Other namesCraniosynostosis-alopecia-brain defect syndrome, Craniosynostosis-alopecia-brain defect syndrome
A young girl showing characteristic bilateral alopecia and angled ears

Gómez–López-Hernández syndrome (GLH) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous (Phakomatosis) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities.[1] Gómez–López-Hernández syndrome has been diagnosed in only 34 people.[2] Cases of Gómez–López-Hernández syndrome may be under-reported as other diseases share the characteristics of cerebellar malformation shown in Gómez–López-Hernández syndrome.[1][2] Gómez–López-Hernández syndrome was first characterized in 1979.[3]

  1. ^ a b Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N (2009). "Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature". Pediatr Neurol. 40 (1): 58–62. doi:10.1016/j.pediatrneurol.2008.10.001. PMID 19068257.
  2. ^ a b de Mattos VF, Graziadio C, Machado Rosa RF, Lenhardt R, Alves RP, Trevisan P, Paskulin GA, Zen PR (2014). "Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?". Pediatr Neurol. 50 (6): 612–5. doi:10.1016/j.pediatrneurol.2014.01.035. PMID 24690526.
  3. ^ Gómez MR (1979). "Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome". Brain Dev. 1 (4): 253–6. doi:10.1016/s0387-7604(79)80039-x. PMID 95427. S2CID 4698879.
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