Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Am J Med Genet A
; 173(3): 733-739, 2017 Mar.
Article
en En
| MEDLINE
| ID: mdl-27888646
ABSTRACT
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies. The finding of one of the pathogenic variants in a previously reported case of spondyloepimetaphyseal dysplasia (SEMD) Strudwick type and the significant clinical similarity suggest an overlap between SMD corner fracture and SEMD Strudwick types. © 2016 Wiley Periodicals, Inc.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
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Fenotipo
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Fracturas de la Tibia
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Colágeno Tipo II
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Estudios de Asociación Genética
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Trastornos del Crecimiento
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Articulación de la Cadera
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Child, preschool
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Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2017
Tipo del documento:
Article