We report a patient with Antley‐Bixler syndrome and review 13 patients from the literature. The cardinal features of this condition include craniosynostosis, severe mid‐face hypoplasia, proptosis, choanal atresia/stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long‐bone fractures and femoral bowing, urogenital abnormalities and a normal karyotype. Early death was identified in 54% of the reported cases, usually due to respiratory complications. The oldest patient at the time of follow up was 10 years of age. Intellectual performance has been variable (developmental testing of our patint at 30 months of age showed a range of developmental skills equivalent to 6 to 11 months of age). Chronic respiratory distrees, especially if accompanied by periods of apnea, may be important in the causation of mental retardation. Some patients with the syndrome have normal itelligence, which suggests a normally developing brain, particularly if a craniectomy is performed to treat sutural synostosis and idicates that there may be secondary factors (e.g., apnea) plaing a role in the mental retardation (as seen in our patient with a history of apnea) in patients with the Antley‐Bixer syndrome. Since choanal atresia/stenosis which diminishes the airway passage is a cardinal feature of this syndrome, choanal stenting shoule be performed on those patients with this finding during infancy to decrease the airway obstruction. All patients followed beyond infancy were ambulatory, including our patient at 35 months of age, who will take steps with assistance. Although most cases are sporadic, there were reports of recurrence in siblings of both sexes in two families, suggesting an autosomal recessive mode of inheritance.

Denouement and Discussion Antley-Bixler Syndrome Manifestations-Major manifestations include craniosynostosis, a characteristic facial appearance, choanal atresia/stenosis, radiohumeral synostosis, bowing of femurs with fractures, and multiple joint contractures. Craniofacial abnormalities consist of brachycephaly secondary to craniosynostosis of the coronal and lambdoidal sutures; large anterior fontanelle; and a face characterized by frontal bossing, flat facies, severe midface hypoplasia, proptosis, flattened nasal bridge, pear-shaped nose, choanal stenosis/atresia, long philtrum, and small, dysplastic ears. Skeletal abnormalities include radiohumeral synostosis, anterior bowing of femurs with neonatal fractures, medial bowing of ulnas, narrow iliac wings, arachnodactyly with distal tapering of digits, camptodactyly, and scoliosis. Other occasional abnormalities are hydrocephalus, atrial septal defects, vaginal atresia, renal defects, multiple hemangiomata, and preauricular tags. Auditory dysfunction may also occur.