To the Editor:
The Opitz or BBBG syndrome is an autosomal dominant disorder characterized by facial anomalies and multiple congenital abnormalities. Recent evidence would suggest that the Opitz and BBB syndromes form a spectrum of the same condition Verloes et al., 19891 and it has been suggested that they be encompassed by the same designation. Since the first report by Opitz et al. L19691 there have been over 30 case reports including those in the recent review by Wilson and Oliver [19881. We describe a baby who had many of the features typical of this disorder and who also had a ring chromosome 22.
A.M. was the third child of nonconsanguineous parents. Pregnancy was uncomplicated and in particular polyhydramnios was not documented. A normal vaginal delivery followed induction at 41 weeks gestation. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. His birthweight was 3,624 g (50th-90th centile), length 54.5 cm (greater than the 90th centile), and head circumference 37.2 cm (greater than the 90th centile). A number of anomalies were noted (Fig. ). He had a hoarse cry, apparent ocular hypertelorism, and down slanting palpebral fissures. His ears were low set with a prominent crus helix. He had a cleft soft palate and deep palmar and plantar skin creases and a systolic heart murmur with no clinical evidence of heart failure.
He had ventral second degree hypospadias, a penis of normal size with an anocutaneous fistula a t the base of the penis, undescended testes, and imperforate anus.
He was mildly hypotonic with normal deep tendon and primitive reflexes. There were major difficulties with feeding. His suck was normal but he was unable to swallow even his own salivary secretions and required frequent oropharyngeal suction and feeding was by way of nasogastric tube. The possible diagnosis of Opitz (G) syndrome was raised in a POSSUM [Bankier et al., 19881 computer search before the patient was seen. The diagnosis was confirmed after seeing the patient on a genetic consultation.