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
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