Table 1 Summary of congenital abnormalities associated with the X linked VACTERL‐H phenotype in the affected fetuses III‐1 and II‐2.

Abnormality	Fetus III‐1	Fetus II‐2
Brain	Bilateral ventriculomegaly, patent aqueduct	Hydrocephalus, Arnold‐Chiari malformation
Vertebral	Abnormal cervical (C2–C6) vertebrae	Lumbar (L5/S1) spina bifida occulta
Alimentary system	Normal	Oesophageal atresia
Cardiac	Normal	ASD, VSD, aortic coarctation
Trachea and oeseophagus	Normal	Fistula
Renal	Agenesis left kidney and ureter	Agenesis right kidney, dysplastic left kidney
Limb	Absent radii and thumbs	Absent radii and thumbs
Genital	Undescended testes	Normal
Ears	Normal	Non‐patent external auditory meatus, low set left ear
Lung	Incomplete lobation	Not known
Cord vessels	Single umbilical artery	Not known
Growth	IUGR	IUGR
Chromosomes	46,XY, abnormal breakage with diepoxybutane	Not known

ASD, atrial septal defect; IUGR, intrauterine growth retardation; VSD, ventricular septal defect.