Antley-Bixler Syndrome: Diagnosis and Treatment

Antley-Bixter Syndrome, also known as Trapezoidocephaly-synostosis syndrome, is an extremely rare disorder - only about 30 cases have been reported - that affects multiple systems. It can be an inherited genetic disorder or the result of a spontaneous genetic mutation. The patient will present with premature closing of the skull bones, choanal atresia - a condition where the nasal airway is blocked by tissue - and craniofacial and limb abnormalities.

There are a total of 26 different symptoms of Antley_Bixler Syndrome including Brachycephaly - an extra wide head, flat on the top, that is caused by the premature closing of the skull bones. Frontal bossing - an unusually prominent forehead, sometimes associated with a heavier than normal brow ridge. Large anterior fontanel - the anterior fontanel is the diamond shaped soft spot at the top if the infants head. If it does not start to close, it is and indication of Antley-Bixler and other disorders. Midfacial hypoplasia, where the upper jaw, cheekbones and eye sockets do not grow as much as the rest of the facial features. Choanal stenosis - a narrowing of the passageway that goes from the back of one side of the nose to the throat. Dysplastic ears- malformation of the ear lobes. Stenotic external auditory canals-abnormal narrowing of the canals. Radiohumeral bone fusion, Arachnodactyly, also known as spider fingers, where the fingers are excessively long, depressed nasal bridge, drooping eyelids, joint contractures, inability to extend fingers, Decreased range of motion at wrists, hips, knees and/or ankles, enlarged interphalangeal joint, increased numbers of flexion creases, distal tapering of fingers, narrow nails, femoral bowing, femoral fractures and rocker-bottom feet.

The prognosis and treatment for a patient with Antley-Bixler Syndrome vary widely depending on the exact symptoms and their severity. Antley-Bixler Syndrome can be fatal. The first thing a physician will do is to assure immediate survival by taking care of any upper airway obstruction. Asphyxiation is the main cause of death in a new born. From there on, it is a matter of taking care of each symptom individually. The main concern, after the upper airway, is the brain. The miss formed skull can cause mental retardation and the surgeon will perform a Cranial vault remodeling, an operation performed by a plastic surgeon and a neurosurgeon that will expand the skull to accommodate the brain. The survival rate of the 30 cases reported is about 1/3 and some of them have tested to show a normal intelligence. There is also 25% chance that the symptoms will re occur.

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