Congenital absence or hypoplasia of the radius with ventricular septal defect: Ventriculo-radial dysplasia

Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome

“…Radial hypoplasia is seen with fair frequency (Rabinowitz et al, 1967). Absence or hypoplasia of the radius has been noted in association with ventricular septal defect, an association termed "ventriculoradial dysplasia" (Harris and Osborne, 1966). Omphalocele cases have a high frequency of congenital cardiac defects, particularly tetralogy of Fallot (Greenwood et al, 1975).…”

Oesophageal atresia in the South West of England.

“…Patients with the DiGeorge syndrome of agenesis of the thymus and hypoplasia of the parathyroids may have associated defects of the fourth aortic arch (right-sided aortic arch or an aberrant right subclavian artery) as well as oesophageal atresia (Freedom, Rosen, and Nadas, 1972). Oesophageal atresia has also been described in association with the Holt-Oram syndrome (Harris and Osborne, 1966), with the asplenia syndrome (Freedom, 1972), and the 'triad' syndrome of abdominal muscle deficiency, renal and urinary tract dysplasia, and cryptorchidism (Myers, 1973).…”

Congenital Heart Disease in Radial Clubbed Hand Syndrome

“…Our series of patients with RCH varies from that of Harris and Osborne (1966) who stressed the association with a VSD anomaly: in our series the association was with a wider spectrum of congenital heart disease.…”

“…A hereditary syndrome of congenital heart disease with forearm and hand abnormalities has also been described by Holt and Oram (1960). Harris and Osborne (1966) suggested that the anomaly of radial clubbed hands (RCH), i.e. congenital absence or hypoplasia of the radius, may be associated with ventricular septal defect and pulmonary hypertension, and this entity was named by them the 'ventricolo radial syndrome' (Fig.…”