In this Journal, Stratton and Payne [1997] described a child with frontonasal abnormality who was found to have a 22q11 deletion. Because this was the first time that the association of nasal bifidity and this deletion was recognized, causality could not be distinguished from coincidence, although there are biologically plausible reasons to suspect the former [Stratton and Payne, 1997]. Recently we identified a similar deletion in a boy with frontonasal abnormalities, including bifidity of the nose.
This boy is currently 9 years old. Physical findings (Figs. 1,2) and medical problems include: broad nasal base, very short nasal spine, upturned nasal tip with incomplete bifidity including three punctate indentations of the tip, small alae nasi, broad columella, asymmetric crying face, velopharyngeal incompetence, transient laryngomalacia and gastroesophageal reflux requiring fundoplication, mildly cupped ears, minimal glandular hypospadias as well as a small dorsal penile hemangioma, and streaky hypopigmentation of the abdomen and thighs. Growth has been normal. He has completely normal hands and fingers. Cardiologic status, including echocardiography, is normal.
Developmental and behavioral problems have become more prominent with age. He has diagnoses including borderline mental retardation, attention deficit disorder, and oppositional-defiant disorder. Trials of methylphenidate, pemoline, and imipramine all seemed to worsen the behavioral problems.
Principally because he shared some traits with Opitz syndrome [Robin et al., 1995] and had an asymmetric crying face [Giannotti et al., 1994;Stewart and Clayton-Smith, 1997], chromosome analysis with fluorescent in situ hybridization, using Oncor (Gaithersburg, MD) DiGeorge probes, was undertaken. It demonstrated a 22q11 deletion. This boy's facial phenotype (Figs. 1,2) is remarkably similar to that of the patient reported by Stratton and Payne [1997]. In addition, our patient had anomalies previously found in association with 22q deletions: not