Paediatric Radiology


Case  12 :  
Diagnosis please!

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Diagnosis:
Asphyxiating Thoracic Dysplasia (Jeune's Syndrome).
 

Discussion
Initial reports of this autosomal recessive condition described infants with constricted chests and mild shortening of the extremities who died from pulmonary hypoplasia. Later reports included patients with less severe respiratory symptoms, although the patients who survive to childhood generally succumb to progressive renal disease.  Prenatal sonographic diagnosis of this disorder has occurred on the basis of an appropriate family history, a flat thorax, and shortened extremities.

X-ray Findings
The striking radiographic features are a narrow thorax and short, horizontally oriented ribs with wide, irregular costochondral junctions .The clavicles may have a high, handle-bar appearance. The neonatal pelvic findings, similar to those in chondroectodermal dysplasia, are short iliac, pubic, and ischial bones, with the lateral borders of the ilia being rounded. The acetabular roofs are flat, with downward spikelike projections at the medial, lateral, and, sometimes, central aspects of the acetabular roofs, the so-called triradiate or trident acetabulum. Premature ossification of the proximal femoral epiphyses occurs in a majority of patients. The sacrosciatic notches are small. The pelvis becomes normal with age, but the proximal femoral metaphyses may become progressively irregular. The long tubular bones are slightly shortened, with minimal metaphyseal flaring. Prominent findings in the hand may be evident. Infants have mild digital shortening, especially in the distal phalanges, and inconstant polydactyly. Later, the epiphyses become cone-shaped and fuse prematurely, producing further shortening of the middle and distal phalanges. Similar findings are present in the feet. The skull and spine are normal.

Dr. Ashok Raghavan, Manipal Hospital, Bangalore