Klippel Feil syndrome is characterized by congenital fusion of cervical vertebrae. We report a rare association of Klippel Feil syndrome with hypoplasia of depressor angularis oris muscle, triphalangeal thumb and distal limb abnormalities.

A male baby was delivered at term to 20 year old primigravida mother. The baby weighed 2.8 kg and cried immediately after birth. Examination revealed short neck, limited lateral flexion of neck along with low posterior hairline. Cleft palate and facial asymmetry in the form of hypoplasia / absence of depressor angularis muscle of left side of face were also present (Fig. 1). Other musculoskeletal abnormalities were absence of radius and first metacarpal bone, elongated-curved ulna and triphalangeal thumb on right side. Radiological examination revealed hemivertebra and fusion of lower cervical vertebrae. Echocardiography revealed perimembranous ventricular septal defect.

Fig. 1. Klippel Feil syndrome with hypoplasia of depressor angularis oris and distal limb abnormalities.

The importance of recognizing Klippel Feil syndrome lies in the fact that there is strong association of this anomaly with other significant conditions like scoliosis (60%), genitourinary abnormalities (65%), Sprengel’s deformity of the scapula (35%), cardiac abnormalities–most commonly VSD (15.35%), deafness (36%)(1).

Our case presented with short neck and restriction of neck movement. Associated features were cleft palate, hemivertebra and fusion of lower cervical vertebra with absence of radius, first metacarpal bone and right triphalangeal thumb along with peri-membranous VSD. Although musculoskeletal abnormalities are known to occur in this syndrome, there is no earlier documentation of associated hypoplasia of depressor angularis oris. Bimanual polydactyly of triphalangeal thumb and thenar hypoplasia(2) are also reported in this syndrome, but there is no earlier documentation of combined association of Klippel Feil syndrome with hypoplasia of depressor anguli oris muscle, triphalangeal thumb and distal limb abnormalities.

In a series of 50 subjects with unilateral hypoplasia of depressor angularis oris associated findings were anomalies of the head and neck (48%), heart (44%), skeleton (22%), genitourinary tract (24%), central nervous system (10%), gastrointestinal tract (6%), and miscellaneous minor anomalies (8%)(3). Additional findings that have been reported in association with congenital hypoplasia of depressor angularis oris are 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance(4).

Manish Narang,
Jagdish Prasad Goyal,
Department of Pediatrics,
UCMS & GTB Hospital,
Delhi 110 095, India.
E-mail: [email protected]

1. Klippel Fiel syndrome. http://www.emedicine. com/orthoped/topic408.htm. Accessed on 30th March 2005.

2. Cincinnati P, Midi P, Rutiloni C. Klippel Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. Clin Dysmorphol 2000; 9: 291-292.

3. Lin DS, Huang FY, Lin SP, Chen MR, Kao HA, Hung HY, et al. Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients. Am J Med Genet 1997; 71: 215-218.

4. Caksen H, Odabas D, Tuncer O, Kirimi E, Tombul T, Ikbal M, et al. A review of 35 cases of asymmetric crying facies. Genet Couns 2004; 15: 159-165.