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.
Very rare, fewer than 20 cases reported.
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.
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.
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.
There are no known specific implications with this condition.
et al: Arnold Chiari malformation with sponastrime (spondylar and nasal changes, with striations of the metaphyses) dysplasia: A case report. Medicine (Baltimore)
et al: Sponastrime dysplasia: Five new cases and review of nine previous published cases. Am J Med Genet