SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators.
Ital J Pediatr
; 46(1): 163, 2020 Nov 03.
Article
en En
| MEDLINE
| ID: mdl-33143726
ABSTRACT
BACKGROUND:
The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children.METHODS:
Molecular analysis of the SHOX gene was performed in 296 subjects with growth impairment or skeletal disproportion, without alternative diagnosis. Auxological variables and radiographs of the hand, wrist and forearm were evaluated.RESULTS:
SHOX mutations (88% inherited, 12% de novo) were identified in 52 subjects. The most predictive auxological indicators of SHOX-D were an increased sitting height/height ratio and a decreased arm span/height ratio. The convexity of distal radial metaphysis at X-ray, not yet reported in literature, was also found to be predictive of SHOX-D. In young children, stratification of data by bone age also highlighted ulnar tilt, lucency of the ulnar border of the distal radius and enlarged radius as the radiological signs most related to SHOX-D .CONCLUSIONS:
In this study, the analysis of auxological and radiological indicators in SHOX-D children allowed to identify an additional early radiological sign and underlines the importance of family auxological evaluation.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Estatura
/
Huesos del Brazo
/
Haploinsuficiencia
/
Proteína de la Caja Homeótica de Baja Estatura
/
Trastornos del Crecimiento
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Child
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Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Ital J Pediatr
Asunto de la revista:
PEDIATRIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Italia