par Ziereisen, France ;De Munter, Claudine;Perlmutter, Noemi
Référence Pediatric radiology, 23, 4, page (314-315)
Publication Publié, 1993
Article révisé par les pairs
Résumé : A 2-month-old boy presented with cartilage calcification, brachytelephalangism, peripheral pulmonary stenosis, hearing loss. short stature and slight psychomotor delay. This case is similar to the two cases described by Keutel in 1972. Since then, four other cases have been reported, we report the seventh case and discuss the clinical findings and the incidence of the disease.