title: JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.
abstract: We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches.
authors.affiliation: Department of Otorhinolaryngology, Erasmus MC Sophia, The Netherlands. Electronic address: l.j.hoeve@erasmusmc.nl.
authors.forename: Hans L J
authors.initials: HL
authors.lastname: Hoeve
authors.affiliation: Department of Clinical Genetics, Erasmus MC, The Netherlands.
authors.forename: Alice S
authors.initials: AS
authors.lastname: Brooks
authors.affiliation: Department of Neurology, Subdivision of Pediatric Neurology, The Netherlands; Department of Paediatrics, Subdivision of Neonatology, Erasmus MC Sophia, The Netherlands.
authors.forename: Liesbeth S
authors.initials: LS
authors.lastname: Smit
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D004432:Ear, Middle / Q000002:abnormalities*; D005260:Female; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000002:abnormalities*; D009426:Netherlands; D010375:Pedigree; D013577:Syndrome; D014826:Vocal Cord Paralysis / Q000235:genetics*
keywords: Ear; Facial dysmorphism; Hearing loss; Multiple congenital malformation; Shoulder musculature; Vocal cord paralysis