Campomelic dysplasia with dextrocardia and without sex-reversal

Abstract

Campomelic dysplasia (CD) is a very rare, sporadic, autosomal dominant syndrome. CD is characterized by an association of skeletal (bowed long bones, pelvis and chest abnormalities, eleven rib pairs) and extraskeletal abnormalities (facial dysmorphism, sex-reversal in boy and visceral malformations). We report a case of a 3 days old male diagnosed by CD. At birth, the boy displayed severe asphyxia and therefore needed intensive care. Physical examination revealed short stature, a craniofacial dysmorphism, cleft palate, muscle hypotonia, skeletal anomalies (chest hypoplasia, curved short upper and lower limbs, talipes equinovarus) cardiac malformations, normal male genitalia. The X-ray examination showed bell-shaped, narrow thoracic cage, hypoplastic scapulae, reduced cranial, pelvic, tibial and fibular ossification, absence of nasal and sternal ossification, cervical kyphosis, 11 pairs of ribs, flat and short vertebral bodies, short humerus with widened distal epiphysis, anterolateral femoral and tibial bowing and ankle valgus deformity. Dextrocardia was identified on X-ray examination and on echocardiography. Karyotype was 46,XY. The particularities of cases are campomelic dysplasia with dextrocardia, but without sex-reversal.