Beals Syndrome

At a glance

Genetic syndrome characterized by multiple osseous dysplasia, ear anomalies, and short stature.

Synonym

Auriculo-Osteodysplasia. Do not confuse with Congenital Contractural Arachnodactyly, which sometimes is also referred to as Beals Syndrome.

Incidence

Two families have been reported. Ratio of females to males is approximately 1:1.

Genetic inheritance

Although the genetic defect has not been identified, an autosomal dominant inheritance is suspected.

Diagnosis

Based on the clinical findings.

Clinical aspects

Dysplasia of the radiocapitellar joint with or without dislocation of the radial head, characteristically shaped ears with elongated and attached earlobes, and an associated small lobule beneath are the hallmarks of this syndrome. Hip dislocation is more frequent in these families. Females tend to have masculine torsos. All affected individuals have a slightly reduced body height. Intelligence is normal.

Precautions before anesthesia

Routine preoperative assessment and examination. There are no specific anesthetic precautions related to this disorder.

Anesthetic considerations

Based on the description, no specific implications for anesthesia are expected. However, positioning the patient requires extra caution in order to prevent dislocation of the affected joints, especially with use of neuromuscular blocking agents.

Pharmacological implications

None specific to this syndrome.

Other condition to be considered

• ☞Nail-Patella Syndrome (Hereditary Osteo-Onycho-Dysplasia; HOOD Syndrome; Turner-Kieser Syndrome; Fong Disease): This autosomal dominant inherited disorder usually becomes apparent at birth or during infancy. It is characterized by dysplasia of the fingernails and toenails, aplasia or hypoplasia of the patellae, webbing of the skin on the elbow(s), and abnormal bilateral projections of the iliac superior crest. Other features include glaucoma (open-angle glaucoma) and a “cloverleaf-shaped iris” (Lester iris). Approximately 30 to 40% of patients may also develop nephropathy during childhood or later in life.

Reference