Pseudoacondroplasya. Presentation of an affected family

Abstract

Introduction: pseudoachondroplasia is a skeletal dysplasia of autosomal dominant transmission. Therefore, the affected parent has a high risk of transmitting the mutated gene to their offspring. The patients are characterized by a disproportionate short stature, affectations in the long bones, the spine and the joints. Due to the deficient growth of the epiphyses, those affected suffer from early joint diseases.

Objective: to present a family affected by pseudoachondroplasia, of interest due to the few cases documented in the country.

Case presentation: family with disproportionate short stature and joint alterations, one of whose members –child under 12 years old– attended for that reason, accompanied by his mother, to the clinical genetic consultation. As a family pathological background they referred to the short stature of the grandfather and the maternal uncles. During the physical examination of the child it was found that his height (below the third percentile) and his weight (between the third and tenth percentiles), were in disproportion with his age. He presented alterations in the hands and feet, and thoracic scoliosis with kyphosis. The mother of the child, also of low stature, presented deformities in the joints of the elbows and knees, associated with pain, and deformity in the thorax (caused by scoliosis of the thoracic spine).

Conclusions: pseudoacondroplasia is one of the bone dysplasias whose diagnosis is sometimes difficult due to the variable expression of the phenotype, which in many cases is interpreted as low family size. Once the disease has been diagnosed, the affected families should be advised about the risk of recurrence in the offspring