title: Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.
abstract: A new syndrome of the major form of hyperekplexia with neonatal onset is described. An infant manifested multisystem involvement with ectodermal anomalies, including lymphedema and double eyelashes (lymphedema-distichiasis syndrome), genitourinary anomalies, and skeletal dysplasia. Despite extensive genetic evaluation, no cytogenetic or molecular etiologies were identified. The literature was reviewed to assess other unusual neurologic and nonneurologic features that have been reported in association with neonatal-onset hyperekplexia-that is, hyperekplexia-plus syndromes.
authors.affiliation: Division of Neurology, Department of Pediatrics, Robert Wood Johnson School of Medicine, and Children's Regional Hospital and Cooper University Hospital, Camden, New Jersey, USA. gmcabee@solarishs.org
authors.forename: Gary N
authors.initials: GN
authors.lastname: McAbee
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Santilli
authors.forename: Jennifer
authors.initials: J
authors.lastname: Stone
authors.forename: Rhonda E
authors.initials: RE
authors.lastname: Schnur
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D004475:Ectoderm / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D009069:Movement Disorders / Q000150:complications*; D013216:Reflex, Startle / Q000502:physiology; D012863:Skeleton; D014057:Tomography, X-Ray Computed; D014564:Urogenital Abnormalities / Q000150:complications*