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.
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. Other occasional
reported features include subglottic stenosis, bronchomalacia, avascular
necrosis of hip, increased lordosis, scoliosis, progressive infantile coxa
vara, and joint deformities.
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.
Langer L, Beals R, LaFranchi S, et al: Sponastrime dysplasia: Five new
cases and review of nine previous published cases. Am J Med Genet