Pediatr. Radiol. 9, 105-108 (1980) Pediatric Radiology �9 by Springer-Verlag 1980

Short Reports

An Unusual Case of Short Limbed Dwarfism and Thoracic Dystrophy with Normal Spine, Hands and Feet*

N. D . D i n n o 1, L o r e t t a T. S h e a r e r 2, a n d B. W e i s s k o p f 3

Departments of 1,3Pediatrics and 2Radiology, University of Louisville School of Medicine, Louisville, Kentucky, USA

Abstract. W e r e p o r t an u n u s u a l f o r m of c h o n d r o d y s - t r o p h y i d e n t i f i e d in a f e m a l e i n f an t at b i r th . S h e was

s e v e r e l y d e l a y e d d e v e l o p m e n t a l l y a n d e x p i r e d at o n e

y e a r o f age. T h e d w a r f i s m was c h a r a c t e r i z e d b y

b r a c h y m e l i a , d y s m o r p h i c f e a t u r e s a n d u n u s u a l

r a d i o l o g i c f ind ings of t h e e x t r e m i t i e s a n d t ho rax . T h e sp ine , h a n d a n d f o o t X - r a y s w e r e n o r m a l . T h e c l in i -

cal a n d r a d i o l o g i c m a n i f e s t a t i o n s a r e u n i q u e a n d

u n r e l a t e d to o t h e r d e s c r i b e d en t i t i es .

Key words: S h o r t l i m b d w a r f i s m - B r a c h y m e l i a -

T h o r a c i c d y s t r o p h y - M e n t a l r e t a r d a t i o n - A c h o n - d r o p l a s i a

Case History

This female infant was the first born to nonconsanguinous parents following a full term pregnancy complicated by slight vaginal spot- ting during the first 3 months. Labour and delivery were normal and the baby weighed 2600 g, had a length of 40.5 cm and head circumference of 34 cm. Multiple congenital abnormalities were present and X-rays were interpreted as compatible with an unusual type of achondroplasia.

The infant was examined at 5 months of age. At that time the weight of 3300 g and length of 46 cm were several standard devia- tions below the 5th percentile but the head circumference of 38 cm was just below the 5th percentile. The chest circumference was 28 cm. She was small for age but her head was proportionally large.

* Supported in part by a Special Project Grant from the Maternal and Child Health Services, Department of Health, Education and Welfare, PHS-HSMHA-MCHS and a National Foundation - March of Dimes Birth Defect Center Grant

Child Evaluation Center, Associate Professor, Department of Pediatrics, University of Louisville 2 Associate Clinical Professor, Department of Radiology, Univer- sity of Louisville 3 Director, Child Evaluation Center, Professor, Department of Pediatrics, University of Louisville

The anterior fontanelle was wide open and extended into a metopic suture. Frontal bossing and a fading hemangioma was present over the forehead. Narrow palpebral fissures, wide depres- sed nasal bridge and short nasal septum were noted. The ears were slanted backwards and cup shaped. The palate was high, mild retrognathia was present and the tongue protruded. There was obvious shortening of the extremities with more involvement of the upper parts, however, the hands and feet were relatively nor- mal. Bilateral simean creases were present. Mild to moderate flex- ion deformity at the wrist joint was apparent. The infant was severely hypotonic. Scoliosis was present but was felt to be sec- ondary to the hyptonia.

Following several attacks of respiratory tract infections, the infant expired at 1 year of age. She was severely developmentally delayed. At 1 year of age she had a crown heel length of 57 cm, head circumference of 44 cm and chest circumference of 32 cm (normal being 47 cm). No dentition was apparent at time of death.

An autopsy performed showed no visceral abnormalities. Some narrowing of the gyri and flattening of sulci was present.

Chromosome analysis done by conventional technique revealed a noimal female karyotype (46XX). Urine for amino acid

Fig. L Lateral of skull at 5 months of age, frontal bossing and open sutures are noted

0 3 0 1 - 0 4 4 9 / 8 0 / 0 0 0 9 / 0 1 0 5 / $ 0 1 . 0 0

106 N.D. Dinno et al.: Dwarfism and Thoracic Dystrophy

Fig. 2. Lateral view of spine at 5 months of age and anterior view of spine and pelvis at 12 months of age

Fig. 3. View of upper and lower extremities and pelvis at 5 months of age

N. D. Dinno et al.: Dwarfism and Thoracic Dystrophy 107

Fig. 4. Upper and lower extremities X-rays at 12 months of age

screen showed a normal pattern. The test for mucopolysaccharides was negative.

Family history revealed that the parents were 22 years old; The father was diagnosed as having Legg-Perthes Disease at 13 years of age but has been asymptomatic for several years. This was the mother's first pregnancy.

Radiographic features showed the calvarium to be large in relation to the facial bones, the sutures were open and there was frontal bossing (Fig. 1). The spine was normal with normal vertebral height and no narrowing of the interpediculate distance was observed (Fig. 2). The thorax was dystrophic with short, horizontal anteriorly flared ribs. The clavicles were normal.

Both upper and lower extremities were markedly shortened. The humeri were short and broad. The radius and ulna were curved toward each other distally. The proximal radius was hypo- plastic and curved toward the ulna. The hands were normal. The femurs were short and curved laterally and anteriorly with a "ball and socket" appearance distally. The tibiae, fibulae and foot bones were relatively normal (Fig. 3, 4). The iliac wings were somewhat square in configuration. The pelvis was otherwise normal and in particular the sciatic notches and acetabular roofs were not remarkable.

Discussion

We have attempted to relate the clinical and radiologic findings of this patient at time of birth to several types of chondrodystrophic dwarfism with hypoplastic thoraces that are diagnostically distinct during the neonatal period. The small restricted thorax has been described in several conditions including asphyxiating thoracic dystrophy, than- atophoric dwarfism, metatropic dwarfism, chondro- ectodermal dysplasia, homozygous achondroplasia, hypophosphatasia [1, 2] and spondyloepiphyseal dys- plasia congenita [3]. The essential characteristics of this dwarfism with normal spine, hands and feet are absent in all of these disorders. We therefore feel that unique findings in this patient represent a new entity that does not relate to other forms of dwarfism.

The mode of inheritence is not clear since it is an isolated and possibly sporadic case, however, one

108

cannot rule out the possibility of an au tosomat reces- sive abnormali ty . It is hoped this article will encour- age repor t ing of o ther cases, so that firm clinical, radiologic, histologic and genetic diagnostic criteria can be established.

References

1. Langer, L. O., Spranger, J. W., Greinacher, I., Herdman, R. C.: Thanatophoric dwarfism. Radiology 92, 285 (1969)

2. Spranger, J.W., Langer, L.O., Wiedeman, H.R.: Bone dys- plasias, pp. 41-51. Philadelphia: W. B. Saunders Co. 1974

N. D. Dinno et al.: Dwarfism and Thoracic Dystrophy

3. Naumoff, P.: Thoracic dysplasia in spondytoepiphysial dysplasia congenita. Am. J. Dis. Child. 131, 653 (1977)

Date of final acceptance: March 19, 1979

Nuhad D. Dinno, M. D. Child Evaluation Center Department of Pediatrics University of Louisville 334 E. Broadway Louisville, KY 40202 USA