THE KLIPPEL-FEIL SYNDROMENUMERICAL REDUCTION OF CERVICAL VERTEBRIE

BY THOMAS P. NOBLE, M.D., F.R.C.S.SECTION ON ORTHOPEDIC SURGERY, MAYO CLINIC

AND

JOHN M. FRAWLEY, M.B.FELLOW IN PEDIATRICS, THE MAYO FOUNDATION

OF ROCHESTER, MINN.

ANATOMIC variations may be found in any part of the spine, but muchless frequently in the dorsal region where it is more stable than either thecervical or lumbosacral regions. The most common site is the lumbosacralregion and in recent years, chiefly due to the work of Bertilotti, considerableattention has been directed to this site. Variations in the cervical region,although comparatively rare, are varied and frequently multiple; nevertheless,they fall into two main types: (I) the numerical reduction of the cervicalvertebrae in which the main clinical picture is a short neck without or withonly a minor degree of torticollis, an anomaly usually associated with thenames of Klippel and Feil and known in the European literature as Klippel-Feil syndrome; and (2) congenital torticollis of vertebral origin in which theshortening of the neck is of small import compared with the torticollis. Thefirst of the two types will be discussed here. Only about thirty such cases arerecorded in the literature and only one has been recorded in this country.All European countries have reported cases, but the French by far the greatestnumber. We wish to record two cases which have been observed in the MayoClinic within the last twelve months.

Historical.-The historical description of congenital anomalies of thecervical spine may be studied from two points of view, the anatomic and theclinical. Anatomic variations in this part of the spine have been noted anddescribed by anatomists for many years. Columbus, in 1792, appears to havebeen the first; his description was soon followed by that of Morgagni. Theyboth believed there were two types of fusion of the upper cervical vertebrae,the congenital and the acquired: the acquired the result of an inflammatoryprocess, such as tuberculous disease or spondylitis, and the congenital,embryonic in origin, and associated wtih other congenital defects. ElliotSmith, in I908, recorded twelve cases of fusion of the atlas to the occipitalbone, six of which were compiled by Wood Jones from the cemeteries oflower Nubia, five from ancient Egyptian cemeteries, and one from the ana-tomical d-epartment of the medical school at Cairo. Macalister, in the anatomi-cal collection at Cambridge, found occipito-axial fusion in I4 per cent. ofskulls, and Franck-Russell found 4 per cent. of 455 skulls of ancient andmodern Americans in the Peabody Museum at Harvard. Gladstone andWakeley, in 1925, record seven cases of congenital anomalies of the cervical

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THE KLIPPEL-FEIL SYNDROME

spine among the specimens in the museuim of King's College. In two of thesecases there was a fusion of the atlas with the occipital bone, and in five anoccipital vertebra.

The clinical records of such cases are much more recent. The earliestclinical description appears to be that of Jackson Clarke, who read the notesof a case before the Clinical Society of London. The patient was a boy,aged four years, whose chin, since birth, had been very close to the sternum;the head was fixed so that there was no movement of the cervical spine. Ther6ntgenogram showed extensive bony abnormalities of the upper dorsaland cervical regions and a cervical rib on each side. The details of the opera-tion are not given, but the child was said to have been improved. In i9i2,the classical case of Klippel and Feil was described with extensive clinical andpathologic detail. The patient was a tailor aged forty-six, whose headappeared to be resting on the trunk as if from suboccipital Pott's disease, thehair was implanted low and all movements of the head were greatly limited.He died in the hospital from pulmonary congestion and nephritis. At necropsythe thoracic cavity was normal but the spinal columin showed considerablevariations from normal and could be divided anatomically into three portions:(i) a cervicodorsal mass with a spina bifida posteriorly; this mass possessedneither atlas nor axis and was probably formed by four dorsal vertebrae;(2) the dorsal vertebrae, eight in numnber and normal in shape, the firstbeing fused to the cervical mass; and (3) the lumbar spine made up of fourvertebrae, the fifth one being fused to the sacrum. In reviewing the vertebralcolumn1 as a whole, there were only twelve well-differentiated vertebrae, fourlumbar and eight dorsal, in place of the lnornmal twenty-four. There weretwelve pairs of ribs; each of the eight dorsal vertebrae possessed one pair, andthe cervicodorsal miass possessed four pairs, described as cervical ribs. Sincethis classical description, numiierous cases have been recorded in the literature,especially the Freniclh and Italian. In i9i9, Feil comlpiled all the reportedcases and published them in the form of a thesis.

Morphology anid Anatomy.-From the point of view of development theskull is divided into two parts, the preotic and the postotic. The preotic, ornon-vertebral part, is the anterior, and is regarded as a new formation toreceive the greatly developed brain and afford protection to the organs of sightand smell. The postotic part is posterior and is of vertebral origin; themore anterior sclerotomes have been fused together to form this portion of theskull. Accordiing to Froriep, the mammalian occiput corresponds to thefusioni of four vertebra and probably in some classes of vertebrates theoccipital regionl of the prinmodial craniumii is increased by fusion of the uppercervical vertebre with a consequent diminution in length of the cervical region.In the course of evolution, the craniovertebral articulation appears to havebeen shifted backward, one vertebra after another having been absorbed intothe skull to form the postotic segment. Many anatomists consider congenitalfusion and, assimilation of the atlas into the occipital bone a further stagein the process of evolution, but when the vertebral column is considered as a

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whole in such cases, it is found sometimes to be actually lengthened. Afterthe original error there is a tendency for the spine to assume the nor-mal proportions.

Atlanto-occipital Fusion.-Swjetschnikow, some years ago, made a carefulstudy of this anomaly and published a very complete monograph on the sub-ject. He divided the condition into three types: (i) those acquired as theresult of tuberculosis, syphilis or arthritis; (2) those acquired by the fetusin utero as the result of pressure in an abnormal pelvis, and (3) those purely

congenital, in which, duringthe process of growth, thesclerotomes which develop

EIFl . ............7it$itothe cranium become ab-normally attached to the

,%j l _ sclerotome of the first cervi-* o'""''j$' ''R';' l l cal segment. The first type

Mt 8 uS - ;X| _will not be considered hereas it is entirely an acquireddisease. The second type isknown as the basilar kvphosof Virchow, and is character-ized by a circular depressionaround the foramen magnumin which the condyles aresituated. The occipital boneis pushed downward, takingwith it the mastoid processes,and overhangs the first cer-- ~~~~~~~~~~~~~~~~~~~~~. ........... ..:'

. si w s$s B sC $ -i . X ] vical vertebra. Severalt he o r i e s exist as to thenature o f this type ofabnormality. Bertilotti re-gards it as a congenital inal-

FIG. I.-Photograph taken in lateral position, showing the formation of the cervicalshortness of the neck. s p i n e; Schultzness andl

TMeyer believe it is caused bv muscular action, and Virchow and Grawitz thatit is due to loss of bony substance. The third type, which is an occipitalizationof the atlas, may exist without other anomalies, but it is frequently accom-panied by other malformation such as haemivertebra, numerical reductionof the vertebra, and spina bifida. It is the most frequent cause of osseoustorticollis and may occur in a unilateral or a bilateral form. If unilateralthe head is inclined to the occipitalized side, the degree of the torticollisdepending on the gravity of the fusion. The head is not always fixed andthere is often some contracture of the muscles of the neck, thus combininga muscular and an osseous torticollis. If the form is bilateral, the symmetryis rarely perfect, so that there is often a minor degree of torticollis. This

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THE KLIPPEL-FEIL SYNDROME

condition is not always noticed at birth., but usually becomes apparent betweenthe fifth and tenth years of life.

Clinical Manifestations.-The clinical picture of this disease has changedbut little since the classical descriptioni of Klippel an(l Feil in 1912. Thecondition is not incompatible with long life as it has been noted in personsseventy years of age. Heredity (loes niot appear to be an influence, nor arethere any familial characteristics. The compile(d records show that it is morecommon in malesthan in females.

T h e symptomsmay be divided into

li J fiprimary and secon- ... ... ...

dary. The primarysymptomis are short-ening of the neck, lowimplantation of thehair and limitation ofthe movements of thehead. 'The head ap-pears to sit directlyon the top of thethorax, in many casesas if there were noneck. The hair ex-tends directly onto thethorax, and in conse-quence of the osseousanomalies there is

Tcheserconabre characteristics a r e t h e

FIG. 2.-Rontgenogram showing that two cervical vertebrae are missing.direct result of thealtered relationship between the shoulder girdle and the thoracic cavity. Theback is generally round, with varyinog degrees of scoliosis, due to the fact thatthe thorax has risen to the occiput. WXith the rising of the thorax the nipplesassume a slightly lower level than normal. The scapulae, unlike the nipples,rise with the thorax, and this, together with the disproportion between thelength of the limbs and the trunk, give a simian appearance to the patient. Tnechin sits directly on the sternum, and is frequently underdeveloped. Theopening of the mouth is restricted' and the teeth frequently grow in anoblique direction. There may or may not be a spina bifida. If there is a gapin the posterior arches of the cervical vertebrae it is not a true spina bifida, butmerely an arrested development and purely an osseous lesion. It corresponds

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to the so-called spina bifida occulta which is so common in the first sacralsegment. In all the recorded cases of the Klippel-Feil syndrome, there is acomplete absence of all nervous and cutaneous lesions. The head as a rule isnot quite straight, and there is generally a minor degree of torticollis.

Etiology.-Many hypotheses have been putt forward to explain congenitalanomalies of the spine; such anoniialies are rarely single b)ut are generallyassociated with variations in other parts of the body. Variations in one partof the spine are very frequently compensated for by variations in anotherpart. Gladstone and Wakelev seem to us to have provided the simplestexplanation. They regard congenital variations not as a regressive or progres-

sive tendency in philogeny,but rather as the result of amorbid condition interferingwith the normal developmentof the fetus. Mlany of thevariations cannot he classified

_AW ji !_asdefects, for frequeently anadditional part, such as a cer-vical rib or a supernumerarydigit is formed. The normaltendency of the paren talstock to transmit is weakenedand it is unable to produce alike offspring. An unstablecondition in the developmentof the fetus is producedwhich induces variations indevelopment. These unstable

i ^ . conditions may b-e producedby unhygienic conditions ordisease affecting eitherparent.

FIG. 3.-Anteroposterior position. Rontge;iologv.-W h e n

rontgenograms of this condition are taken certain definite positions mustbe used to bring out the anomalies. These positions have been very carefullystudied and described by Feil. RW`ntgenograms should portray first the spineas a wlhole, so as to give a general idea of the sites of anomaly, and, secondthe local condition and relations of the cervical segments. In pictures of thespine as a whole, three positions are necessary: An oblique anterior taken fromthe right or left, an anteroposterior, and a lateral. Localized rintgenogramsshould be taken through the mouth and by axial projection from the base ofthe skull in order to get images of the atlas and axis, and the occipitovertebraland allanto-axial articulations.

Pathologic Anatomy.-Very few actual pathologic specimens have beenstudied; most of our knowledge of the pathologic anatomy of this disease is

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THE KLlPPEL-FEIL SYNDROME

based on rontgenologic examinations. Considerable variations are shown,from the absence of a single cervical vertebra to complete absence of thecervical spine. Feil recognized three types: complete absence of the cervicalspine; partial numerical reduction of the cervical vertebra, and partial reduc-tion not confined to the cervical vertebrae, but extending throughout thewhole spine.

In two-thirds of the cases, a large triangular opening occupies the posteriorpart of the vertebrce and in sonme cases extends from the cranium to thethoracic region. The thorax ascend(is to the skull, forming a cervical thorax.The atla is often fused tothe occipital bone and thereis almost alway_s a basilar orcraniocervical kyplhosis.

REPORT OF CASES

CASE I.-A mnale chill. agedfourteen months, was l)rought tothe Mayo Clinic, March 25, I925,on account of shortness of thenieck. At his birtlh the parentslnoticed that his neck was very _slhort, and later that the rotationiof the neck was greatly restricted.In July, 1924, the neck was r6nt-genographed by their home phy-sician, who discovered that someof the cervical vertebrae weremissing. There is nio history ofshort neck in the family.

The baby was fat andhealthy. Besides the very shortnieck anid its limite(l rotatione.there was also a cleft in the softpalate. Rontgenograms showed

FIG. 4.-Lateral position.that twvo cervical vertebra weremissinig. A (liagniosis of Klippel-Feil synidrome was thlen made. (Figs. I atnd O.)

CASE II.--A female child, aged three years, was brought to the Mayo Clinic,September 30, 1924, because of shortness of th,e nieck. The parenits had noticed that thenieck had beein abniormally short since birtlh. The c,hild w!as otherwise healthy. Ront-genologic exalminiationl revealed ai abseiice of two cervical vertebrxe. A diagniosis ofKlippel-Feil syndrome was made. (Figs. 3 anid 4.)

CONCLUSIONSNumerical reduction of the cervical vertebrae is a comparatively rare

congenital anomaly, butt undoubtedly is more common than the literaturewould lead one to believe. The clinical appearances of patients with thisanomaly are characteristic. The pathologic changes may vary from absenceof one or two cervical vertebrae to complete absence of the whole cer-vical spine.

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BIBLIOGRAPHYBertillotti: Le anomalie congenite del Rachide cervicale. Putte. chir. del organi di

movemento, I920, pp. 395-499.2Clarke, J. J.: Congenital Deformity of the Cervical Spine, Treated by Operation.

Lancet, I906, vol. ii, p. I350.'Columbus: Quoted by Bertillotti.4Feil, A.: L'absence et la diminution des vertebres cervicales. Paris, I9I9, I23 pp.5Feil, A.: Comment doit-on radiographer la colonne cervicale quand on soupconne

l'existence d'une anomalie? Jour. Rad. et d'electrol., I923, vol. vii, pp. I25-133.'Franck, Russell: Quoted by Bertillotti.T Froriep: Text-book of Anatomy. Cunningham, Pentland Brothers, i906, 2 ed.'Gladstone, R. J., and Wakeley, C. P. G.: Variations of the Occipito-atlantal Joint in

Relation to the Metameric Structure of the Cranio-vertebral Region. Jour. Anat.,1925, vol. lix, pt. 2, pp. 195-2I6.

Grawitz, Paul: Beitrag zur Lehre von der basilaren Impression des Schadels. Virchow'sArch. f. path. Anat. u. Physiol. u. klin. Med., i88o, vol. lxxx, pp. 449-474.

Klippel and Feil: Un cas d'absence des vertebres cervicales. Nouvelle Iconographicde la Salpetriere, 1912, pp. 225-250.

Macalister: Quoted by Bertillotti.Meyer, L.: Der skoliotische Schadel. Arch. f. Psychiat.. I877, vol. viii, pp. IO-I30.-Morgagni: Quoted by Bertillotti.

14 Schultzness: Schadelassymetrie bei congenitalen Skoliose. Ztschr. f. orthop. Chir.,I908, vol. xix.

15 Smith, Elliot: The Significance of Fusion of the Atlas to the Occipital Bone andManifestation of Occipital Vertebrae. Brit. Med. Jour., i9o8. vol. ii, pp. 594-596.

6 Swjetschnikow: Ueber die Assimilation des Atlas und die Manifestation des Occipital-wirbels beim Menschen. Arch. f. Anat. u. Entwcklngsgesch., I906, pp. I55-I94.

Virchow: Quoted by, Grawitz.

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