© Borgis - New Medicine 1/2003, s. 23-25
JP Masel FRANZCR, FCR1, Kozłowski K, FRANZCR2
Asphyxiating thoracic dysplasia
1 Consultant Radiologist Royal Children´s Hospital Brisbane
2 Honorary Radiologist, New Children´s Hospital, Sydney
Summary
We describe two children with aspyhyxiating thoracic dysplasia, both whom showed classical radiographic features. The first patient had an asymptomatic clinical course. The second child died soon after the birth. Radiographic appearances of asphyxiating thoracis dystrophy show little variability whereas the clinical course is very versatile.
Introduction
Asphyxiating Thoracic Dysplasia (ATD) is a relatively common bone dysplasia occurring in about 1:100.000--130.000 births.
The major distinctive clinical features are long, narrow thorax, short extremities, short hand, progressive renal disease and hepatic fibrosis (4,5). The major characteristic radiographic findings consist of small thorax, triradiate acetabulum, short tabular bones, and short middle and distal phalanges with cone shaped epiphyses (4, 5).
ATD is inherited as a recessive trait with significant variablility of clinical course, and fairly constant radiographic presentation. Between the severe cases which are still born or die soon after the birth (3, 4) and the asymptomatic patients diagnosed accidentally (6) there is a whole range of ”in between cases” of variable severity. Recurrent respiratory infections and progressive renal disease are constant features of the ”in between cases”.
We report two patients ATD, one asymptomatic and one with severe, clinical course and fatal outcome.
Case report
Patient 1
This boy was born after uncomplicated pregnancy and delivery. There was no evidence of respiratory distress but because of a small thorax skeletal survey was performed and the diagnosis of ATD established on the basis of chest and pelvic X-rays (Fig 1.A&B).
Fig. 1. A-C. A&B Newborn. A. Small thorax slightly narrowed in the upper part. Short, anteriorly widened ribs; B. Flat, triradiate acetabula. Short, bowed femora with widened ends. Advanced ossification of the capital femoral epiphyses; C. 3 year-old. Grossly normal chest.
At the age of 3 months he was admitted to the Mater Hospital in Brisbane with clinical features suggesting hepatomegaly. There was no evidence of chest problems. The routine blood and urine examinations and liver function tests were normal.
Ultrasound of the abdomen was normal. Hepatomegaly was spurious secondary to small thorax. Radiograph of the chest taken at the age of 3 years grossly normal (Fig 1.C).
An older sister is also affected with similar, moderate, asymptomatic from of the disease.
Patient 2
This girl was born after normal pregnancy and delivery. Birth weight was 3560g. Her thorax was small and narrow. Severe respiratory distress was present immediately after birth. She was admitted to intensive care unit died at the age of 5 days.
Radiographic examination on the second day of life documented narrow, rectangular chest charakteristic pelvis and upper limb changes (Fig 2. A-C).
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Piśmiennictwo
1. Bernstein R. et al.: Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases. J. Med. Genet. 1985; 22:46-53. 2. Brueton L.A. et al.: Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? 3. Franceschini A. et al.: Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of continuous spectrum. Am. J. Med. Genet. 1995; 59:359-364. 4. Jequier J.C.: La dystrophie thoracique asphyxiante. Arch. Fr. Ped. 1970; 27:177-193. 5. Jeune M. et al.: Dystrophie thoracique asphyxiante de caractere familial. Arch. Fr. Ped. 1955; 12:886-891. 6. Kozlowski K., Masel J.: Asphyxiating thoracic dystrophy withhout respiratory disease. Report of two casses of the latent from. Ped. Radiol. 1976; 5:30-33. 7. Kozlowski K. et al.: Difficulties in differentiation between chondroectodermal dysplasia (Ellis-van Creveld syndrome) and asphyxiating thoracis dystrophy. Aust. Radiol. 1972; 16:401-410. 8. Marik I. et al.: Thoracic-plevic dysostosis. Clin. Dysmorph. 2000; 9:1-3. 9. Michels V.V., Donovan K.: Shwachman syndrome: unusual presentation as asphyxiating thoracis dystrophy. Brith Defects 1982; 18, 3B:129-134. 10. Rabushka S., Kadison H.I.: Isolated thoracic dysostosis. Radiology 1972; 106:161-165. 11. Schinzel A. et al.: Prenatal sonographic diagnosis of Jeune syndrome. Radiology 1975; 154:777-778.
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