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Heterogeneity of sponastrime dysplasia: Delineation of a variant form with severe mental retardation
Verloes, Alain; Misson, Jean-Paul; Dubru, J. M. et al.
1995In Clinical Dysmorphology, 4 (3), p. 208-215
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Abstract :
[en] We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment.
Disciplines :
Neurology
Genetics & genetic processes
Pediatrics
Author, co-author :
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Misson, Jean-Paul ;  Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Dubru, J. M.
Jamblin, P.
Le Merrer, M.
Language :
English
Title :
Heterogeneity of sponastrime dysplasia: Delineation of a variant form with severe mental retardation
Publication date :
July 1995
Journal title :
Clinical Dysmorphology
ISSN :
0962-8827
eISSN :
1473-5717
Publisher :
Lippincott Williams and Wilkins, United Kingdom
Volume :
4
Issue :
3
Pages :
208-215
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 26 June 2010

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