SPONASTRIME Dysplasia

At a glance

SPONASTRIME is an acronym that stands for SPOndylar and NAsal alterations with STRIated MEtaphyses. Short-limb dwarfism with saddle nose, abnormal vertebral bodies with age-dependent changes, severe scoliosis and lumbar lordosis, midface hypoplasia, frontal bossing, and metaphyseal striation. Normal intelligence.

Incidence

Very rare, fewer than 20 cases reported.

Genetic inheritance

Autosomal recessive.

Diagnosis

Clinical and radiological features. Radiological features may change with age. Radiograph of vertebral spine typically shows abnormal lumbar vertebral bodies with marked variability. These include marked reduced height with anterior part of body taller than posterior part, convex endplate, and central anterior body protuberance. Radiograph of long bones typically shows irregularity of metaphyseal margins and variable density with vertical-oriented striations in metaphyseal regions.

Clinical aspects

Common features are short-limb dwarfism, minor craniofacial anomalies, and normal intelligence. Growth: progressive growth failure, lower limbs more involved than upper limbs. Craniofacial: large head, frontal bossing, epicanthal folds, midface hypoplasia, broad and anteverted “saddle” nose is characteristic, mild prognathism. Arnold Chiari malformation has been reported. Other occasional reported features include subglottic stenosis, bronchomalacia, avascular necrosis of hip, increased lordosis, scoliosis, progressive infantile coxa vara, and joint deformities.

Precautions before anesthesia

Assess airway for potential difficulty with direct laryngoscopy.

Anesthetic considerations

The potential for difficult direct laryngoscopy and tracheal intubation is present because of the large head, abnormal facies, and mild prognathism. Caution with positioning of head and short limbs with deformed joints.

Pharmacological implications

There are no known specific implications with this condition.

References