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2005, Number 3

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Rev Mex Pediatr 2005; 72 (3)

Thanatophoric dysplasia: review of the diagnostic criteria in five autopsy cases

Padilla RÁL, Durán PMA, Davies BR

Language: Spanish
References: 18
Page: 126-132
PDF size: 97.58 Kb.


ABSTRACT

Constitutional diseases of bone are an important group within pediatric pathology that include several disorders of different clinical course. Thanatophoric dysplasia (TD) is a form of osteochondrodysplasia with defects of the tubular bones, non-short trunk and platyspondylia. The criteria to establish the diagnosis are morphologic, radiographic and histopathologic. We report five autopsy cases of TD from the General Hospital of Mexico. The minimum time of life was 20 minutes and the maximum was 8 days. Morphologically all had increased cephalic perimeter, narrow thorax, hypoplastic lungs and rhizomelic shortening of the extremities. Radiologically all had vertebral bodies reduced in height with wide intervertebral spaces and shortening of the extremities, three cases had telephone receiver-like curved femora. Histopathologically all had retarded and disorganized physeal growth zones of the large bones. TD is the most frequent osteochondrodysplasia of lethal course, therefore is important to know the diagnostic criteria of this disorder. Because it can be detected during the pregnancy, we can determine an adequated proceeding and offer a genetic advice to the parents.


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