OCTOBER, 1966

358

ASPHYXIATING THORACIC DYSTROPHYOF THE NEWBORN*

By TUGRUL PIRNAR, M.D., and E. B. D. NEUHAUSER, M.D.

BOSTON, MASSACHUSETTS

SPHYXIATING thoracic dystrophyof the newborn is a rare, familial mal-

formation with an early onset of respiratory

distress and in many instances a fatal out-

come. It was first described by Jeune et al.5

in 1955. The thoracic dystrophy is onlyone manifestation of a generalized chon-

dnodystrophy, but since thoracic changesconstitute the most salient feature of the

disease and since pulmonary complicationsare the usual cause of death, this descrip-tive name used by Jeune and his co-workers

appears to be an appropriate one.There are 7 cases of this disease previ-

ously reported in the French and Italian

literature. Recently, we have had the op-

portunity to observe a little girl presenting

characteristic findings of asphyxiating tho-racic dystrophy. She has been studied ex-

tensively, including a chromosomal analy-

sis which has not been done before in pa-

tients with this condition. A review of thepatients who have presented with atypical

chondrodystrophies in the past yearsyielded 4 more cases; 3 of them were hos-pitalized between the years of 1956 and1959.

Following is the presentation of our 5cases and a brief discussion of the disease.

REPORT OF CASES

CASE I. A.A.C. This � week old girl was ad-mitted to Children’s Hospital Medical Centerbecause of “blue spells.” The child weighed 2.4

kg. at birth and was kept in an incubator withoxygen for 4 days following delivery.

On admission she weighed 2.3 kg. and thelength, head circumference and weight were be-low the third percentile. She was an oddlyshaped baby with relatively short extremitiesand a long trunk. She was breathing rapidly andhad expiratory wheezes and intercostal retnac-

tion. The extremities and lips were slightlycyanotic. There were 6 digits on each of the

hands and feet. Physical examination wasotherwise negative.

Routine urinalysis, blood cell counts and se-rum chemistries were negative. The urinarymucopolysaccharide level was normal, as was a

chromosomal analysis.

Roentgen Findings. The thorax was grosslyabnormal in contour with marked narrowing inits transverse and sagittal axes, accompanied byrelative elongation of the vertical axis. The ribswere short and stubby with their underdevel-

oped distal ends hardly extending beyond theanterior axillary line. The distal costal meta-

physes were swollen and revealed some splay-ing. The clavicles were abnormally high (Fig. �,

A and B).In the pelvis, the iliac wings were short and

had a squared appearance. The margins of theacetabular fossae and the triradiate cartilageareas showed marked irregularity and presenteda scalloped outline (Fig. 2).

The long bones of the extremities were some-what short and stubby but otherwise appearedunremarkable. Supernumerary fingers and toeswere present. Roentgen examination of theskull and spine was within normal limits.

The child was treated with oxygen and de-veloped atelectasis of the left lung with increase

in her respiratory distress while in the hospital.There was gradual resolution of the atelectasis

and she was weaned from oxygen. The babywas doing fairly well when she was discharged tothe care of the parents, 14 days after admission.

CASE II. R.C. This baby boy was admitted tothe Children’s Hospital Medical Center at I

month of age with the chief complaints of cya-nosis and jaundice. Cyanosis was noticed fol-lowing delivery and onset of jaundice at 24

hours of age. He was placed in oxygen for 2 daysfollowing delivery.

On admission, the chest was noticed to be

small and the abdomen was large and bulging.I here was minimal beading of the costochon-

* From the Departments of Radiology, Children’s Hospital Medical Center and Harvard Medical School, Boston, Massachusetts.

‘/#

�so.. 98, No. 2 Thoracic Dystrophy of the Newborn 359

1-in. i. Case I. (A) Posteroanterior and (B) lateral roentgenograms of the chest. Notice the markedly hy-po-

plastic and shot t ribs wilich are terminating laterally with their ends barely’ showing on tile posteroanteriorroentgcnogram. The anterior chest wall is abnormally high with the ribs retaining a horizontal position

and tile clavicles being abnormally high. The spine appears normal.

dral junctions. Otherwise, the physical exami-

nation was normal.

Ihe abnormal laboratory data consisted of

high levels of direct and indirect biliru bin in the

blood (5.4/9.7 il1�. per cent), decreased stool

i’m. 2. Case i. Roentgenogranl of the pelvis. Ab-normal and retarded enchondral ossification at the

triradiate cartilage has resulted in hvpoplasticiliac bones and irregular acetabular margins.

urobilinogen, and positive urine urobilinogen.

Roentgen Findings. The thorax was narrow

and elongated with silort and hypoplastic ribs

displaying irregular and wide anterior meta-

physes. lile clavicles had a high position (Fig.

3, /1 and B; 4; and 5).

After discharge from tile hospital this babywas followed at regular intervals in tile out-pa-

tient clinic and was treated for frequent respi-

ratory infections. He died at II months of age.

Our Ilext 3 patients (P.McC., R.McC.,

and B.McC.) are siblings. There are 2 more

siblings in this family and tilev are normal.

The mother of the cllildnen is normal,

whereas the father has dorsal spine changes

which are tilought to be residual deformi-

ties of Scheuermann’s disease. One paternal

aunt is known to have tlied in infancy of

pneu mon i a.

CASE III. P.McC. Ihis was tile first Children’s

Hospital Medical Center admission of this 26

month old wllite male with cough and fever.

The patient was born with an abnormally

I

#{149}�t�-

throughout ilas been slow.

Physical examination revealed rather short

extremities and the external manifestations of

the chest deformity were seen in the roentgeno-

grams of the chest (Fig. 6, A and B).

Fin. �. Case mm. (�1) Posteroanterior and (B)

lateral roentgenograms of the chest.

FIG. 5. Case ii. (A and B) Roentgenograms of the

upper extremities. The metaphy’ses are widened

and the physes are very’ irregular and present a

�scalloped profile, reflecting the disturbed enchon-dral ossification.

360 Tugrul Pirnar and E. B. D. Neuhausen OCTOBER, 1966

0

‘0!..:

l”rn. �. Case II. Roentgenogram of tile pelvis. l’heiliac bones are very small; the hypoplastic iliacwings are squared. The deep sciatic notches re-

semble those of an achondroplastic pelvis hut there

is no narrowing of the lumbar interpediculate

spaces.

shaped chest and has been having multiple epi-

sodes of upper respiratory tract infections often

associated with otitis media. His growth rate

V

�oi.. (jS, No. Thoracic Dystnophy of the Newborn

Ihe patient was found to have bronchopneu-

fllOllia and after 2 days of treatment was dis-

charged with illlprovefllent.

Laboratory data including a cllromosomal

analysis and urine mucopolysaccharide determi-

nation were normal.

C:�sE IV. R.NIcC. ‘I’his eider sibling in tile

same family was first seen in the Children’s

Hospital Nledical Center as an outpatient at 2

years of age with bronchitis and a cilest defor-

Ill it)’. His recurrent respiratory tract in fections

before aild after tilis episode were treated by ilis

pediatriciail, �tmid, at tile tulle of his younger

sibling’s hospitalization 7 years later, he wasbrought into tile Ciiiklren’s Hospital i’\Iedical

Center for a follow-up. His early severe thoracic

deform i ty revealed ren� arkable i in provemen t

over tilis period of 7 years and this interesting

sequence is shown in I�’igures 7, �l and B; and8, �1 aild B.

CASE V. B.\IcC. This youngest sibling in tile

NIcC. family was 2 years old at tile tulle tile

entire failliiy was brought to Children’s Hospi-

tal 1\Iedical Ceo ter for exam ination (November,

1965). l�ollowing birtil, he suffered from recur-

rent respiratory tract infections quite similar to

tilose of the affected siblings �uul tilese were

treated 1))’ the same family physician.

Roentgen exan�ination of the cilest and pelvis

revealed chondrodystropilic changes identical

to tile ones seen in Ilis eider brothers (Fig. �, A

and B; and io).

1)1 SC US SIC) N

A review of the reported cases of this

polvchondnodvstropilv shows that the de-

gree of involvement of different pants of the

fetal skeleton is quite variable. One con-

stant and unifying finding in all tile pa-

tients is the marked tilonacic deformity.

Tile disturbed ossification in the costo-

chondral junctions leads to abundant ir-

regular cartilage growth, somewhat re-

sembling a nacilitic rosary, and to under-

developed, short, stubby ribs. Tile result isa small, immobile thorax. Because of the

h�’poplasti c fixed thonacic cage, respiratory

motions are almost exclusively abdominal.

Air exchange is ver�’ poor, and these pa-tients are prone to recurrent pulmonaryinfections, asphyxia and death. In marked

contrast to the recessed chest wall, the

FIG. 6. Case III. (A) Posteroanterior and (B) lateral

roentgenograms of the chest, again showing the

characteristic deformity with short and stubby

ribs.

abdomen appears to be protruding and

volu ruinous. Abdom al respirations are

vigorous. Head shape is normal. The ex-tnemities may be short and stubby. Poly-

dactyly has been observed in 3 patients.

Roentgenographic examination provides

the most important clues to the diagnosis.

FIG. 8. Case iv. (A and B) Roentgcnograms of thechest at 9 years of age. Note the marked improve-ment of the ribs, which are seen to be essentially of

normal length and texture at this time.

362 Tugrul Pinnar and F. B. D. Neuhauser (hro111:R, 1966

B

I V. I� l’� stCI( �Interfl)r in) R Literalr en t�en cvi In t ti chest it years �f ice. I he

hi� ;�last�e, hr :il in) sinirt rihis ire reahilv seen,

cspeei;ihl Y in the l;iter;il I)r�1ect IL

‘I’Iic skclctal a hn i’m au tics arc pi-csci� t and

di sccrn j He fr( rn the ii rst d�i vs of 1 fe. the

l)OflV thoi’iI\ is \er\ niH-row with short wide

I’Il)s l)arel v rcaeiiin� the anterior axillai-v

line. The nibs have a horizontal projection.

Tile anterior chest wall and clavicles retain

a fixed, elevated position. The distal costalmetaphyses show some widening. The

l’I(;. 9. Case v. (A) Posteroanterior and (Th lateral roentgenograms of tile chest.

\oi.. 98, No. 2 Thoracic Dvstnopilv of tile Newborn 36’s

costochondral junctions are splayed and in-

regular. tile heart ii�a�’ appear relativel\’

elllarged l)ecause of tile ulicrothorax, but

usually there is no true cardiomegalv. Tuepelvis is always small and the iivpoplastic

iliac wings llave a squared appearance.

Both the crest apoph�’seal edges of tile ilia

and the enchondral ossification margins

around the tniradiate cartilages are very

irregular, often scalloped, the long bones of

tile extremities may be relatively short and

wide. There ma�’ be disturbance of ossifica-

tion in tue metaphvses. However, the

manifestations of this generalized osteo-

chondrodystroplly are minimal ill tile ex-

tremities and nlucll less obvious than in

achondroplasia. Tue skull and spine are

roentgenographicallv normal.

Several patiellts have died in the first on

secolld year of life; survivors include I case

reported by Neimann et al.,1 which was still

alive at tile age of3, and � of our cases, one

of which is only 9 months old now.

There is only one postmortenl examina-

tion available in this group of patients.8

ihe Illicroscopic examination of tile costo-

chondral junctions showed ver\- disordered

and poorly progressing enchondrai ossifica-

tion. The hvaiine cartilage was normal. ihe

P�’�li ferati ng cartilage was ii vperplastic andyen abundant. the zone of provisional

calcification, however, rem ai ned very urn-ited and vessels penetrated it i rregu I ark.

I-ic. io. Case V. Anteroposterior roentgenogram ofthe pelvis showing the typical squaring of the iliacwings.

364 Tugrul Pirnar and E. B. D. Neuhauser OCTOBER, 1966

The continuity between the cartilage col-

umns and bone was irregular and abnormal.The nodular hypertrophy at the costo-chondral junctions was caused by pro-liferation of cartilage and by deposition of a

disordered fibrocollagenous tissue.With complete roentgenographic exami-

nation of the skeleton, asphyxiating tho-

racic dystrophy can usually be easily differ-

entiated from achondroplasia, epiphysealdysplasia and metaphyseal dysostosis. Ac-

tually, the only disease to which it may

bear a close resemblance is the Ellis-VanCreveld syndrome. The appearance of the

pelvis is quite similar in both diseases.However, in the patients with the Ellis-Van

Creveld syndrome, the involvement of the

thorax in the chondrodystrophic processis minimal and, in most cases, the thorax is

completely normal in the presence of def-

inite changes in the long bones of the ex-

tremities. In addition, manifestations ofectodermal dysplasia, such as abnormalteeth and nails, in this latter group of pa-tients are further helpful in differentiatingthem from our patients with the thoracicdystrophy.

Our fourth case suggests that the chon-

drodystrophic changes are reversible inlater childhood. Extremely vigilant care is

necessary to tide these patients over the

respiratory complications of the critical

first years of life.

SUMMARY

Asphyxiating thoracic dystrophy is a

rare and in most instances fatal osteochon-

drodystrophy affecting the bony thorax.

Patients with this syndrome have a small,

immobile thorax, are prone to respiratorydifficulties and may succumb to pneumoniaand its complications. The smallness of the

thorax is mainly due to hypoplasia of the

ribs. The long bones of the extremities areusually short and wide but are not severely

affected.Five cases of this osteochondrodystrophy

are reported.

E. B. D. Neuhauser, M.D.Department of RadiologyThe Children’s Hospital Medical Center300 Longwood AvenueBoston, Massachusetts 02115

We wish to thank Dr. Edward C. Dyer ofBrookline, Massachusetts, for permitting us to

include his patients in this study.

REFERENCES

I. BALOCCO, A., and ZORATTO, E. Considerazioni

cliniche su di un caso di policondrodistrofia.Minervapediat., 1960, 12, 1618-1622.

2. DE SAmuo, P. N., and MARCHESE, G. S. Su un

caso di distrofia encondrale poliepifisaria in unneonato con alterazione mortale della dinamicarespiratoria. Minerva pediat., 1956, 8, 1415-

1420.

3. FONTAN, A., GUICHARD, R., I)ELORME, G.,BATTIN, J. J., and AUBOIN, B. Un cas de dystro-phie thoracique asphyxiante du nourisson. Ann.

de radiol., 1965, Vol 8, No. Hors-S#{233}rie, 163-169.

4. JEUNE, M., CARRON, R., BERAUD, C., and LOAEC,

Y. Polychondrodystrophie avec blocage thora-cique d’#{233}volution fatale. Pe’ditarie, 1954, 9,390-392.

5. JEUNE, M., BERAUD, C., and CARRON, R. Dys-

trophie thoracique asphyxiante de caract#{233}re

familial. Arch. franc. p#{233}diat.,1955, 12, 886-891.

6. KAUFMANN, H. J. R#{246}ntgenbefunde am kindlichenBecken bei angeborenen Skelettaffektionen und

chromosomalen Abberationen. Georg Thieme

Verlag, Stuttgart, 1964, 49-50.

7. MAROTEAUX, P., and SAVART, P. La dystrophiethoracique asphyxiante: #{233}tuderadiologique etrapports avec le syndrome d’Ellis Ct Van

Creveld. Ann. de radiol., 1964, 7, 332-338.

8. NEIMANN, N., MANCIAUX, M., RAYBER, G.,PERNOT, C., and BRETAGN E-DE-KERSUSON,

M. C., Dystrophie thoracique asphyxiante du

nourisson. P#{233}diatrie,1963, IS, 387-397.