Klippel-Feil Syndrome with Congenital Heart Disease

Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report

“…Andre Feil classified the disease into three categories (I-III). Type 1 is the cervical spinal fusion where elements of several vertebrae are incorporated into a single block; type 2 has a failure of complete segmentation at only 1 or 2 cervical levels including occipito-atlantal fusion; and, type 3 is a type 1 or 2 fusion with coexisting segmental errors in the lower dorsal or lumbar spine [ 3 ].…”

“…These genes code for the bone morphogenic protein family [ 1 , 2 ] Our patient did not have a significant history of the same or any structural or genetic diseases in the family. Klippel Feil syndrome causes abnormal fusion of at least two cervical vertebrae in the spine [ 3 ]. They present with a short neck, low hairline at the back of the line, raised scapula (sprengel's deformity) and restricted movement of the upper spine, facial asymmetry most of which was present in our patient.…”

Anorectal malformation associated with klippel–Feil syndrome: A rare association

“…Exact etiology of association of KFS with ARM is not known, but it might occur due to disruption of normal mesodermal development during embryological life that can result in failure of segmentation of cervical vertebrae in addition to failure of development of terminal hindgut and in the complete division of cloaca by urorectal septum. [ 8 9 ]…”

“…ARM and KFS can also be associated with skeletal, cardiovascular, genitourinary, central nervous system, and gastrointestinal anomalies. [ 8 ] However, in KFS, skeletal anomalies such as scoliosis, Sprengel anomaly, omovertebral bone, and craniolacunia are most commonly associated followed by genitourinary anomalies in contrast to ARM where genitourinary anomalies are most commonly associated. [ 7 ] Sprengel deformity is a congenital condition with a small and undescended scapula often associated with scapular winging and hypoplasia omovertebral connection between superior medial angle of scapula and cervical spine (30%–50%).…”

Klippel–Feil anomaly and neural tube defects

“…Many radiological reports of KFA mention SBO in the abnormal cervical vertebrae. However, there are also reports of open neural tube defects, including cervical or occipital meningocele [Latto, 1942;Peters, 1962;Cohney, 1963;Morrison et al, 1968;Primrose, 1970;Jarvis and Sellars, 1974;Pizzutillo et al, 1994] and cervical meningomyelocele [Nora et al, 1961]. The sibling of a child with Type 1 KFA was reported with hydrocephalus, [Gunderson et al, 1967] although it was not known if cervical fusion was present.…”