Lo. Langer et al., SPONASTRIME DYSPLASIA - 5 NEW CASES AND REVIEW OF 9 PREVIOUSLY PUBLISHED CASES, American journal of medical genetics, 63(1), 1996, pp. 20-27
Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-lim
b bone dysplasia, The diagnosis is established by a combination of cli
nical and radiological findings of which the radiological are the more
specific, The current diagnostic criteria are ambiguous as demonstrat
ed by the fact that, in our opinion, three of the five patients report
ed since the original article do not have this condition, Comparison o
f our five patients and the 9 published patients has led to developmen
t of more specific diagnostic criteria, Previously undescribed complic
ations of this condition are subglottic stenosis and tracheo-broncho-m
alacia, developmental coxa vara, and avascular necrosis of the capital
femoral epiphyses. (C) 1996 Wiley-Liss, Inc.