Abstract
Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criteria are ambiguous as demonstrated by the fact that, in our opinion, three of the five patients reported since the original article do not have this condition. Comparison of our five patients and the 9 published patients has led to development of more specific diagnostic criteria. Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 20-27 |
| Number of pages | 8 |
| Journal | American Journal of Medical Genetics |
| Volume | 63 |
| Issue number | 1 |
| DOIs | |
| State | Published - May 3 1996 |
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Keywords
- autosomal recessive
- developmental coxa vara
- dwarfism
- familial
- osteochondrodysplasia
ASJC Scopus subject areas
- Genetics(clinical)
- Neuroscience(all)
- Neuropsychology and Physiological Psychology
Cite this
Sponastrime dysplasia : Five new cases and review of nine previously published cases. / Langer, Leonard O.; Beals, Rodney K.; Lafranchi, Stephen; Scott, Charles I.; Sockalosky, Joseph J.
In: American Journal of Medical Genetics, Vol. 63, No. 1, 03.05.1996, p. 20-27.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Sponastrime dysplasia
T2 - Five new cases and review of nine previously published cases
AU - Langer, Leonard O.
AU - Beals, Rodney K.
AU - Lafranchi, Stephen
AU - Scott, Charles I.
AU - Sockalosky, Joseph J.
PY - 1996/5/3
Y1 - 1996/5/3
N2 - Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criteria are ambiguous as demonstrated by the fact that, in our opinion, three of the five patients reported since the original article do not have this condition. Comparison of our five patients and the 9 published patients has led to development of more specific diagnostic criteria. Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses.
AB - Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criteria are ambiguous as demonstrated by the fact that, in our opinion, three of the five patients reported since the original article do not have this condition. Comparison of our five patients and the 9 published patients has led to development of more specific diagnostic criteria. Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses.
KW - autosomal recessive
KW - developmental coxa vara
KW - dwarfism
KW - familial
KW - osteochondrodysplasia
UR - http://www.scopus.com/inward/record.url?scp=0029870865&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029870865&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-W
DO - 10.1002/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-W
M3 - Article
C2 - 8723082
AN - SCOPUS:0029870865
VL - 63
SP - 20
EP - 27
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -