Ontology highlight
ABSTRACT:
SUBMITTER: Choudhary A
PROVIDER: S-EPMC5359355 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Choudhary Anita A Minocha Priyanka P Sitaraman Sadasivan S
Intractable & rare diseases research 20170201 1
Gomez-Lopez-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by a triad of findings: partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. GLHS is also known as cerebello-trigeminal-dermal dysplasia. Besides this triad, a number of varying traits have been described in 35 previously reported cases. Reported here is a case of a four-year-old boy, born out of consanguineous marriage, presenting with the classic triad of findings, <i>i.e.</i> pa ...[more]