CASE REPORT

Klippel-Feil
syndrome
the hospital and discharged the fol-

J 0 Ozoh lowing day.
BSc, MB BS, FMCR (Rad) Nigeria

MB ChB, FCRad (Diag)

L D R Tsatsi Case report

Department of Diagnostic Radiology
Medical University of Southern Africa

H B Broudie
MBChB, DMRD (London)

Department of Diagnostic
Radiology and Imaging

Tembisa Hospital
Pretoria

Abstract
We present a 38-year-old male

patient who sustained a minor and
superficial stab injury in the left flank
as well as a laceration on the scalp
overlying the right parietal bone.

On examination the classical triad
of Klippel-Feil syndrome (short neck,
low posterior hair line, limitation of
neck movements) were observed.
Further investigations revealed a
plethora of congenital anomalies,
including atlanto-occipital fusion,
basilar impression, congenital fusion
of CS and C6 vertebrae, scoliosis with
convexity to the right side, complete
situs inversus, and bilateral pelvic kid-
neys.

Despite these multiple anomalies
our patient still lives a relatively nor-
mal life and only sought medical help
after minor injuries sustained during
a brawl, for which he was treated in

A 38-year-old man presented with
a stab injury in the left flank and lac-
eration of the head.

On examination he was short
statured, with a short neck, low poste-
rior hairline, and severe restriction of
neck movement. There was no loss of
consciousness. A stab injury in the left
flank, and scalp laceration overlying
the right parietal region of the skull
were observed. Blood pressure was
120 mmHg, and pulse 72 beats/
minute and regular.

Blood analysis showed sedimenta-
tion rate of 6 mm in the first hour,
haemoglobin 11.0 g/dl. Urinalysis
and hearing tests were normal. The
presence of the classical clinical triad
of Klippel-Feil syndrome, namely

Fig. 1. Lateral view of the skull and cervical spine.
This shows atlanto-occipital fusion, and fusion of
the CS and CB vertebrae, as well as basilar impres-
s/on.

30 SA JOURNAL OF RADIOLOGY • September 2002

short neck, limitation of neck move-
ment and low posterior hairline, stim-
ulated a search for associated anom-
alies in this patient. Lateral skull and
cervical spine X-ray showed atlanto-
occipital fusion, congenital fusion of
CS and C6 and basilar impression
(Fig. I). The atlanto-occipital fusion
was better demonstrated by the tomo-
gram of the lateral skull and cervical
spine (Fig. 2).

Fig. 2. Tomogram of the lateral view of the skull and
cervical spine showing euemo- occipital fusion.

Fig 3. Chest X-ray, PA-view. This shows marked

Chest X-ray revealed complete situs
inversus scoliosis, and X-ray of the
thoracic spine showed convexity to
the right side (Fig. 3). Intravenous



CASE REPORT

Fig. 4. Nephrotomogram, demonstrating the
bilateral pelvic kidneys.

urography disclosed bilateral pelvic
kidneys, illustrated by the tomogram
of the intravenous urography (Fig. 4).
The superficial stab injury in the left
flank was sutured and the patient was
admitted. He was however discharged
from the ward the next day.
Subsequent follow-up visits were
uneventful.

Discussion
It is perhaps noteworthy that our

patient presented with such a range of
congenital mesodermal abnormalities
and yet was still living a relatively nor-
mal life. To the best of our knowledge
this case of Klippel-Feil syndrome
with a plurality of other anomalies is
the first to be documented. Klippel-
Feil syndrome occurs in 1 of 42 000
births, with equal male to female ratio,
and it is believed to have been recog-
nised in an Egyptian mummy in 500
BC,I The classifications as described
by Klippel-Feil are: (i) type 1 - a
block fusion of all the cervical and
upper thoracic vertebrae; (ii) type 2
- fusion of one or two pairs of cervi-
cal vertebrae, frequently the second to
the third or the fifth to the sixth,

which is the most common type; and
(iii) type 3 - fusion of the cervical
and lower thoracic or lumbar spine.'

The syndrome appears to be
genetically determined, and with type
2 anomalies there may be occipitilisa-
tion of the atlas,' as was seen in this
patient. Chamberlain's line is drawn
from the back of the hard palate to the
posterior lip of the foramen magnum,
and basilar impression is implied
when more than half the odontoid
peg lies above it. Our patient had
basilar impression because almost all
the C2 vertebrae lay above
Chamberlain's line (Fig. I). Basilar
impression implies an elevation of the
floor of the posterior fossa, which is
congenital in origin and is associated
with Klippel-Feil syndrome or
atlanta-occipital fusion.' Other con-
ditions include fragilitas ossium and
cleidocranial dysostosis.

The main significance of basilar
impression, which is usually symp-
tomless, is in the neurological symp-
toms, which may sometimes result
from pressure on and distortion of the
brainstem, and obstruction of free
cerebrospinal fluid circulation.'

The fusion of CS and C6 vertebrae
seen in our patient is common. The
association of Klippel-Feil syndrome
with complete situs inversus is a rarity.
In 505 cases of Klippel-Feil syndrome
reviewed, only two patients had com-
plete situs inversus.' In a review of 50
patients with Klippel-Feil syndrome,
60% had scoliosis, believed to be the
most frequent anomaly,' Unilateral
renal anomaly is the most common
renal anomaly, followed by malrota-

tion of the kidneys, renal pelvic and
ureteral duplication, and simple renal
ectopia.' Bilateral pelvic kidneys as
found in this patient are very rare. All
the five pelvic kidneys studied by
Moore et al.2 in Klippel-Feil syndrome
patients were unilateral.

Other serious but less apparent
anomalies include Sprengel's defor-
mity, synkinesia," hearing impair-
ment,3.5.6and congenital heart dis-
ease+" The cervical vertebrae and
genitourinary tract differentiate at the
same time and in the same vicinity
(between the seventh and fourteenth
mesodermal sornites) in the embryo,
therefore insult to the fetus between
the fourth and eighth weeks of devel-
opment could produce both geni-
tourinary anomalies and the Klippel-
Feil syndrome.'

References
1. Gray SW, Romaine, Cê, Skanaalkis JE.

Congenital fusion of cervical vertebrae. Sutgico!
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2. Moore WB, Matthews TJ, Rabinowitz R.
Genitourinary anomalies associated with
Klippel-Peil syndrome. J Bone Joint Surg 1975;
57A: 355-357.

3. Ramsey J, Bliznak J. Klippel-feil syndrome with
renal agenesis, and other anomalies. American
Journal of Roentgenology, Radium Therapy and
Nuclear Medicine 1971; 113: 460-463.

4. David Sutton. Textbook of Radiology and
Imaging. 6th ed. London: Churchill
Livingstone, 1998: 1469-1470.

5. Hensinger RN, Lang JE, MacEwen GD. Klippel-
Feil syndrome. A constellation of associated
anomalies. J Bone Joint Surg 1974; 56A: 1246-
1253.

6. Stark EW; Borton TE. Klippel-Feil syndrome
and associated hearing loss. Archives of
Otolaryngology 1973; 97: 415-419.

7. Nora JJ, Cohen M, Maxwell GM. Klippel-Feil
syndrome with congenital heart disease.
American Journal of Diseases of Children. 1961;
102: 858-864.

31 SA JOURNAL OF RADIOLOGY • September 2002