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Kozlowski type of spondylometaphyseal dysplasia

Monday 11 February 2008

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