AustralieFrV1, Main, Exploration, bibRecord, 00A448

Severe, atypical form of dyschondrosteosis (report of two cases)

Identifieur interne : 00A448 ( Main/Exploration ); précédent : 00A447; suivant : 00A449

Severe, atypical form of dyschondrosteosis (report of two cases)

Auteurs : Tadeusz Bieganski [Pologne] ; Krzysztof Bik [Pologne] ; Valerie Cormier-Daire [France] ; Celine Huber [France] ; Grzegorz Nowicki [Pologne] ; Kazimierz Kozlowski [Australie]

Source :

European journal of pediatrics [ 0340-6199 ] ; 2005.

RBID : Pascal:05-0405463

Descripteurs français

Pascal (Inist)
- Dyschondrostéose, Grave, Atypique, Dysplasie, Etude cas, Péroné, Hypoplasie, Syndrome, Pédiatrie, Forme grave.
Wicri :
- topic : Pédiatrie.

English descriptors

KwdEn :
- Atypical, Case study, Dyschondrosteosis, Dysplasia, Fibula, Hypoplasia, Pediatrics, Severe, Syndrome.

Abstract

We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene (SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found. Conclusion: Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene (SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found. Conclusion: Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.</div>
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Severe, atypical form of dyschondrosteosis (report of two cases)

Severe, atypical form of dyschondrosteosis (report of two cases)

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri