They emphasized the diagnostic value of the very small, bladeless scapulas and hypoplastic pedicles of thoracic vertebrae. Usually the hips are dislocated and talipes equinovarus deformities are present. The chondrocranium is small and the neurocranium disproportionately large. Respiratory distress is caused by small thoracic cage, narrow airways from defective tracheobronchial cartilages, and sometimes micrognathia, cleft palate, retroglossia and hypoplastic lungs. Absence of the olfactory bulbs and tracts, and heart and renal malformations have been noted.
Most patients die in early infancy.
Mansour et al. There was a predominance of phenotypic females owing to sex reversal. Patel et al. Campomelic dysplasia Camptomelic dysplasia, campomelic syndrome, campomelic dwarfism, congenital bowing of the limbs. Sex reversal occurs in some genotypic males with lack the H-Y antigen.