Displasia campomélica: reporte de un caso

campomelic dysplasia is a very rare, severe osteochondrodysplasia characterized by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. the pattern of inheritance is not clearly understood, in most cases, it is thought to be autosomal recessive. however, this may be a sporadic autosomal dominant mutation. we report a case of a male neonate, without consanguinity between parents, with characteristic signs of campomelic dysplasia with short birth length of 40 cm, macrocephaly (head circumference 34 cm), dolichocephaly, short trunk and legs. narrow rib cage, bowed lower extremities, high forehead, hypertelorism, low nasal bridge, micrognathia and low set ears were found. respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients.