DESMISTIFYING SKELETAL DYSPLASIAS: A PRACTICAL APPROACH FOR THE PEDIATRIC ENDOCRINOLOGIST.
Horm Res Paediatr
; 2024 Feb 02.
Article
em En
| MEDLINE
| ID: mdl-38310868
ABSTRACT
BACKGROUND:
Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis is challenging as there are many skeletal dysplasias with similar phenotypes.SUMMARY:
In this review, we describe the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the workup of a child with suspected skeletal dysplasia. Diagnosis requires clinical, laboratory, and radiological evaluation to differentiate potential conditions in the patient. Genotyping has emerged as a confirmatory tool in many cases, enabling personalized treatment through a multidisciplinary approach and assessment of associated comorbidities. KEY MESSAGES As skeletal dysplasias often present with short stature, proportionate or disproportionate, the pediatric endocrinologist plays a crucial role in initial investigative and diagnostic guidance. Identifying the critical clinical manifestations, conducting appropriate initial screening tests, and referring for multidisciplinary follow-up contribute to expeditious diagnosis and family support.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Guideline
/
Prognostic_studies
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article