Type of dwarfism characterized by enchondromatosis
with marked involvement of the spine.
Spondylo-Enchondromatosis; Spondylo-Metaphyseal Dysplasia
with Enchondromatous Changes.
Clinical and radiological features. Radiograph of
vertebral spine typically shows platyspondyly i.e., congenital flattening of the
vertebral bodies, which is often
accentuated dorsally, and frequently associated with a spina bifida. Radiograph of
long bones shows the metaphyses as irregular and slightly widened with
varying radiolucent lesions. Radiolucent areas may also be present in
diaphyses, epiphyses, iliac crest, scapulae, and sternum.
Common clinical features include growth retardation, minor
craniofacial anomalies and peculiar enchondromatous changes in skeletal
bones. Growth: short limbs, short trunk, short stature. Craniofacial: dolichocephaly, frontal
bossing, mild midface hypoplasia. Skeletal: increased lumbar lordosis;
kyphoscoliosis; barrel chest; genu valgum or varus; short, broad hands.
Neurology: variable mental capacity, ranging from mostly normal intelligence to
occasionally moderate retardation. A type 2 has been described with the
presence of calcification of basal ganglia on CT scan and associated with
progressive spastic quadriparesis. A spina bifida is often present.
A careful evaluation of the airway must be
conducted to eliminate a
potentially difficult airway management.
No specific consideration.
The possibility of difficult airway management must be anticipated because of the
craniofacial anomalies, i.e., a large head, midface hypoplasia and cervicothoracic
vertebral fusion. Care in positioning of patient must be provided because of the
increased lumbar lordosis, large head, and short limbs.
There are no known specific
implications with this condition.
Frydman M, Bar-Ziv J, Preminger-Shapiro R, et al: Possible heterogeneity
in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcification,
and chondrocyte inclusions. Am J Med Genet
Menger H, Kruse K, Spranger J: Spondyloenchondrodysplasia. J Med Genet