Familial partial trisomy of the long arm of chromosome 3 ( 3 q ) CLAUDINE FEAR

The propositus (Fig. 1) was the result of a 3rd pregnancy of the mother; she had had 2 phenotypically normal children from a previous marriage. The pregnancy was noted for small fetal size, lack of intrauterine movements, and recurrent small antipartum haemorrhages. Urinary oestriol excretion was low throughout the pregnancy. The child was delivered by emergency caesarean section when the mother presented in labour with a fetal heart rate of 80. The child, a girl, with multiple congenital anomalies, died soon after delivery. Clinical features included: a square-shaped face; wide nasal bridge and everted nostrils; small malformed and malpositioned ears; absence of right eye; high arched palate; a short webbed neck; clinodactyly of the 5th fingers; lumbar meningomyelocele with congenital dislocation of both hips, and bilateral talipes equinovarus. X-ray of the chest showed hypoplasia of the right first rib. Necropsy (Guy's Hospital, no. 362/76) (Dr J. Heaton) showed absence of the roof of the right orbit and the dysplastic right eye was found in the anterior cranial fossa. Large anterior and posterior sagittal fontanelles separated the bones of the vault of the skull. The brain (250 g) was sectioned to show