This is a disorder of the newborn characterized by congenital bowing and angulation of long bones, together with other skeletal and extraskeletal defects. The scapulas are very small and the pelvis and spine show changes. Eleven pairs of ribs are usually present. The inferior part of the scapula is hypoplastic. Cleft palate, micrognathia, flat face, and hypertelorism are also features.
Most patients die in the neonatal period of respiratory distress.
Hovmoller et al. In 9 previously reported cases the karyotype had been studied and in one of these cases a girl was found to have a 46,XY karyotype. Abnormal external genitalia were described in other cases. Parental consanguinity was noted by Cremin et al. Hoefnagel et al.