A sporadic case of klippel-feil syndrome type 2.

Sir,

Klippel-Feil syndrome (KFS) is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France.[1] The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all three clinical features (Tracy et al., 2004).[2] The inheritance pattern is usually sporadic but sometimes autosomal dominant and recessive. The exact cause is still not known. Although the actual occurrence for the KFS is unknown, it is estimated to occur 1 in 40,000-42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males.[3] KFS can be identified by shortness of the neck. Those with the syndrome have a very low hairline and the ability of the neck to move is limited. Andre Feil in 1919 classified the syndrome into three categories: Including types I, II, and III depending on cervical, thoracic, and lumbar spine malformation. However, recently, Samartzis et al.,[4] in 2006 proposed three classification types that specifically addressed the cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome. We report a classical and rare case of KFS as it contains all the three components of triad.

A term, female child weighing 2532 g was born at term gestation to a second gravida mother with previous history of one abortion. Baby was a product of nonconsanguineous marriage and antenatal period was uneventful. She was delivered by assisted breech delivery and had Apgar scores of 4 and 6 at 1 and 5 min, respectively. There was no family history of similar lesions. There was no history of any drug intake or significant infection during antenatal period. On examination, the head was fused with back, neck was absent, and posterior hair line was low. She was also having scoliosis, bilateral microophthalmia, b/l ears anomalies, flat nose, and bilateral parietal cephalhematoma [Figures 1 and 2]. There was no obvious organomegaly. She had the typical triad of KFS, including very short neck, low occipital hairline, and reduced bilateral neck movements. Umbilical cord had two arteries and one vein. Anal opening was patulous. The child was diagnosed as a sporadic case of KFS type 2 with fusion of cervical as well as thoracic vertebrae with perinatal asphyxia and was treated symptomatically and referred her to higher centre for further workup.

Figure 1

Absence of neck, low hair line

Figure 2

Ear anomalies, low hair line, and scoliosis