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At a glance

Autosomal dominant inherited syndrome with hydrocephalus, cleft palate, joint contractures, and abnormal dermal ridge patterning of palms and fingertips.

Synonyms

Aase-Smith Syndrome I; Distal Arthrogryposis Type IIB Syndrome; Sheldon-Hall Syndrome.

History

First described in 1968, in a father and his two children (a stillborn boy and a girl who died at 6 weeks of age), by the American pediatricians Jon Morton Aase and David Weyhe Smith.

Incidence

Unknown, but extremely rare.

Genetic inheritance

Autosomal dominant.

Diagnosis

Based on the clinical findings of hydrocephalus with ☞Dandy-Walker anomaly and severe joint contractures.

Clinical aspects

Cranial features may include hydrocephalus associated with Dandy-Walker malformation, gross dilatation of the fourth ventricle, deformation of the medulla and absence of the cerebellar tentorium, and cerebellar mid-portion. The hydrocephalus in the girl in the original report was rapidly progressing. Intelligence in the father was described as normal. Other facial features may include ptosis, external ear deformities, cleft lip palate, and limited mouth opening. Small, multiple ventricular septal defects and right ventricular hypertrophy have been reported. The joint contractures can be severe but are nonprogressive and predominantly affect the very thin and filiform fingers (patient is unable to make a fist). Both, the palms and the fingers (particularly the fingertips) exhibit absent or abnormal dermal ridge patterning and absent knuckles. All extremities are shortened and other joints affected by flexion contractures include the elbows, hips, and knees. Thoracic or lumbar scoliosis and clubfoot deformity may be present. Congenital neuroblastoma was found in the girl.

Precautions before anesthesia

Obtain an echocardiogram to rule out cardiac lesions. Check for signs of raised intracranial pressure (ICP) (fontanelle in infants). Ultrasound or other diagnostic imaging means may be required to rule out neuroblastoma.

Anesthetic considerations

Mouth opening may be severely limited, hence expect airway management to be difficult. Maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. Careful positioning and padding are essential. In the presence of hydrocephalus, anesthetic management should take increased ICP into consideration and aim to maintain an appropriate cerebral perfusion pressure while at the same time avoiding further increases in ICP.

Pharmacological implications

None specific to this syndrome.

Other conditions to be considered

  • Aase-Smith Syndrome II (☞Blackfan-Diamond Syndrome): Extremely rare autosomal recessive inherited ...

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