Klippel-Feil syndrome: a case report

Abstract

Klippel-Feil Syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae. The most common signs are short neck, low hairline at the back of head and restricted mobility of neck. We report a case of a neonate who presented with complaint of respiratory difficulty and later diagnosed as case of Klippel-Feil syndrome.

Klippel Feil Syndrome Type III with Associated Rare Congenital Anomalies: A Rare Case Report

“…It was initially reported by Maurice Klippel and Andre Feil in 1912 (3). Incidence as reported in different studies is 1:40,000 -1:42000 per live birth with slight female predominance (1,2,5,6).…”

“…Klippel Feil Syndrome (KFS) is defined as congenital anomaly with fusion of two or more cervical vertebral bodies characterized by presence of classic triad which includes low posterior hairline, short neck and restricted range of motion (1,2). Typical classic triad however is found only in about 50% of cases (3,4).…”

“…It results due to faulty segmentation along the embryo's developing axis around 3-8 weeks of gestation (1). Pathogenesis of KFS involves various genetic mutations in genes like GDF 6, GDF 3, MEOX 1 and RIPPLY 2 (4).…”

“…Prognosis is based on radiological classification by Samartzi's et al which classifies KFS under 3 types; Type I -Single congenitally fused cervical segment; Type II -Multiple, non contiguous congenitally fused cervical segments; Type III -Multiple, contiguous congenitally fused cervical segments with thoracic and lumbar spine anomalies (1,2,4,6).…”

Síndrome de Klippel-Feil autosómico dominante: una malformación de segmentación vertebral

“…Se ha demostrado que las mutaciones en los loci del gen GDF3 (cromosoma 12p13.1), GDF6 (cromosoma 8q22.1) y MEOX1 (cromosoma 17q21.31) están relacionadas con el KFS [24][25][26] . En una investigación de Ye M, et al donde se identificó múltiples variantes de sentido erróneo en familias con KFS; al parecer representa uno de los pocos estudios que informa sobre la contribución de proteínas óseas morfogenéticas en individuos heterocigóticos con alteraciones en GDF3 y GDF6 10 .…”