Thoracic-Pelvic-Phalangeal Dystrophy

Abstract

The thoracic-pelvic-phalangeal dystrophy (TPPD) is a heritable condition with an autosomal recessive mode of genetic transmission. This entity has been called familial asphyxiant thoracic dystrophy (6), asphyxiating thoracic dystrophy of the newborn (15), infantile thoracic dystrophy (3), and Jeune's disease (16). Individuals with this condition have constriction of the thorax and short extremities and characteristic changes in the fingers and toes. The small thoracic cage may contribute to respiratory death in infancy, and associated renal disease may be a cause of death in childhood. Because of the serious medical implications of this condition and its genetic nature, with a 25 per cent chance of each subsequent pregnancy's resulting in an affected child, it is important to establish the correct diagnosis. Material The analysis in this article is based on 2 cases seen personally, 3 patients whose radiographs were seen in consultation, and 43 cases published in the literature, 27 of which included, in my opinion, adequate documentation to establish a radiographic diagnosis (4): that is, in addition to a chest radiograph, there were included in the article radiographs of the pelvis and, in some instances, of the hands. Case Reports Case I: A newborn female with a very narrow thorax, short extremities, and polydactylia of the hands and feet died after several gasping respirations. No autopsy was performed. Postmortem radiographs are discussed in the section on radiographic features. Case II: A newborn male was examined because of mild generalized central nervous system depression and a questionably enlarged liver. The clinical measurements at birth were: length 51 cm (approximately the fiftieth percentile for age), head circumference 37.5 cm (the ninety-seventh percentile for age), chest circumference 31 cm (between the tenth and twenty-fifth percentiles for age). Radiographic examination of the chest and abdomen at three days of age was interpreted as showing the changes of TPPD (see section on radiographic features). After the radiographic study, it was felt on clinical examination that the thorax was somewhat constricted. The signs of central nervous system depression disappeared, and the patient was discharged at five days of age. At no time in the hospital or during the subsequent month were there any respiratory symptoms. The patient was then lost to follow-up. Case III: A male who was clinically well was first seen at nineteen months of age because of disproportionately short limbs. A radiographic study which was made at this time is discussed in the section on radiographic features. When 2 1/2-years-old, the patient was seen by his physician because of sleeping problems, and it was noted that the hemoglobin was 8.2 g per 100 ml. This rose to 10.0 g per 100 ml on iron therapy. At the age of three years and one month he had several episodes of epistaxis and was found to be pale.