Oculoauriculofrontonasal syndrome in a nine-month-old male

Abstract

Oculoauriculofrontonasal syndrome (OAFNS) was initially described in 1983. Since that time there have been 18 patients reported in the literature with this rare presumed autosomal recessive syndrome. Individuals with OAFNS have clinical features in common with both the oculoauriculovertebral spectrum and the frontonasal dysplasia sequence. We present a nine month old Caucasian male with OAFNS. The patient was delivered at 38 weeks gestation to a healthy 39-year-old (G3P3) mother. The patient's parents were non-consanguineous and his two older brothers were unaffected. The remainder of the family history was non-contributory. A chorionic villus sampling was performed due to advanced maternal age and a normal 46, XY male karyotype was found. A cleft lip and a possible cerebral mass were identified by routine prenatal ultrasound. At birth, the patient was small for gestational age and had multiple congenital anomalies including bilateral cleft lip and palate, left pre-auricular skin tag, severely hypoplastic right pinna without an external canal, severely everted and hypoplastic left upper eyelid, notched broad nasal tip, ocular hypertelorism, and micrognathia. Further evaluations showed an extra cervical rib on the left, hemivertebrae at T3-4, agenesis of the posterior corpus callosum with a midline lipoma, an extra renal pelvis on the left, a small patent foramen ovale, and severe hearing loss. A high-resolution chromosome analysis (550 band level) including a FISH probe study for the 22q11 deletion was normal. At nine months of age, the patient had significant feeding difficulties. Height, weight and head circumference was below the third percentile. His developmental milestones were within normal limits. The above findings are consistent with the diagnosis of OAFNS.