Type III Klippel–Feil syndrome: case report and review of associated craniofacial anomalies

Abstract

Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior hairline. It may also be associated with anomalies of the genitourinary, musculoskeletal, neurologic and cardiac systems. We report a case of type III KFS with associated rib anomalies such as cervical rib, fusion and bifid ribs, scoliosis and fused crossed renal ectopia. The aim of this paper was to summarize all craniofacial anomalies that occur in association with KFS, so that clinicians would be aware of them during diagnosis and treatment planning.

Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report

“…12 A variety of craniofacial anomalies have also been reported in KFS, few of which are quite common, such as cleft palate and bifid uvula (15%) and facial asymmetry (13%), whereas others are represented by isolated cases. 13 Our patient showed mild face asymmetry accompanied by craniofacial anomalies such as rhinoscoliosis, high nasal bridge, inclined septi nasi, thin upper lip, and high arched palate. This patient is a rare KFS case describing nose anomalies.…”

Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report

“…KFS, originally described in 1912 [8], is a rare skeletal congenital medical condition caused by the failed segmentation of the mesodermal somites [10] (Fig. 4).…”

A Previously Unreported Variant of a Thoracic Vertebra

“…This is a rare congenital skeletal malformation characterized by the triad of short neck, limitation of head and neck movements and low posterior hairline [9]. There have been three types of Klippel-Feil syndrome described with type three involving the thoracic and lumbar spine anomalies [10].…”

“…There have been three types of Klippel-Feil syndrome described with type three involving the thoracic and lumbar spine anomalies [10]. The etiology of KFS is still unknown, but there have been some associations with chromosomal translocations and teratogenic causes that could lead to abnormal formation of the vertebral column [9][10].…”