Kozlowski type of spondylometaphyseal dysplasia
Autosomal dominant disease
Synopsis
short-trunked dwarfism
adult height 130-150 cm
normal facies
short neck
pectus carinatum
delayed skeletal maturation
sphenoid hypoplasia
odontoid hypoplasia
platyspondyly
scoliosis
kyphoscoliosis
open staircase vertebral bodies
medially places pedicles
square iliac wings
short iliac wings
fat, irregular acetabula
cxa vara
iregular metaphyses (rachitic-like metaphyses)
mildly curved limbs (varus)
hypoplastic carpal bones
severe carpal ossification delay
short hands, stubby hands
short feet, stubby feet
normal at birth
waddling gait noted at age 15-20 months
See also
osteochondrodysplasias
- spondylometaphyseal dysplasia
References
Guzman CM, Aaron GR. Spondylometaphyseal dysplasia (Kozlowski type): case report. Pediatr Dent. 1993 Jan-Feb;15(1):49-52. PMID: #8233993#
Riggs W Jr, Summitt RL. Spondylometaphyseal dysplasia (Kozlowski). Report of affected mother and son. Radiology. 1971 Nov;101(2):375-81. PMID: #5000428#