The deletion 9p syndrome is a well-recognized entity, with about 100 reported cases. Characteristic findings include trigonocephaly, upslanting palpebral fissures, epicanthal folds, anteverted nares, long philtrum, posteriorly angulated and poorly formed ears, excess of whorls on the fingers, and mental retardation [Bianchi, 1990]. There have been two previous reports of choanal atresia in children with deletion of 9p [Huret et al., 1988;Shashi et al., 1994]. We now report a third case of deletion 9p with choanal atresia.
A male infant was born at 35 weeks of gestation to a 25-year-old primigravid woman. The pregnancy was complicated by insulin dependent gestational diabetes. His birth weight was 2335 g (50th centile), length 46.5 cm (50th centile), and head circumference 30.3 cm (25th centile). Endotracheal intubation was carried out soon after birth due to respiratory distress. A nasogastric tube could not be passed through the nose, and choanal atresia was suspected. Subsequently, a computed tomography scan confirmed the diagnosis of bilateral bony choanal atresia. He also had a short left palpebral fissure, a depressed and wide nasal bridge, anteverted nares, and low set posteriorly angulated ears. The penis was small, measuring 1 cm in size (-2 SD below the mean). Eye findings were normal, with no coloboma. Hearing was normal on testing. An echocardiogram showed that the heart was structurally normal, with a small PDA that closed spontaneously. CHARGE association was a consideration, but ruled out. He underwent surgical repair of the choanal atresia at 11 days, with stent placement, and was discharged home at 20 days of age.
Cytogenetic analysis of blood lymphocytes showed a deletion of the short arm of chromosome 9 at p22. Parental chromosome analysis was declined, although they were counseled of the possibility that the 9p abnormality may have resulted from an inherited balanced translocation.