TY - JOUR
T1 - Achondroplasia in Latin America
T2 - practical recommendations for the multidisciplinary care of pediatric patients
AU - Llerena, Juan
AU - Kim, Chong Ae
AU - Fano, Virginia
AU - Rosselli, Pablo
AU - Collett-Solberg, Paulo Ferrez
AU - de Medeiros, Paula Frassinetti Vasconcelos
AU - del Pino, Mariana
AU - Bertola, Débora
AU - Lourenço, Charles Marques
AU - Cavalcanti, Denise Pontes
AU - Félix, Têmis Maria
AU - Rosa-Bellas, Antonio
AU - Rossi, Norma Teresa
AU - Cortes, Fanny
AU - Abreu, Flávia
AU - Cavalcanti, Nicolette
AU - Ruz, Maria Cecilia Hervias
AU - Baratela, Wagner
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - Background: Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts’ recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries. Methods: Latin American experts (from Argentina, Brazil, Chile and Colombia) particiáted of an Advisory Board meeting (October 2019), and had a structured discussion how patients with achondroplasia are followed in their healthcare centers and punctuated gaps and opportunities for regional improvement in the management of achondroplasia. Results: Practical recommendations have been established for genetic counselling, prenatal diagnosis and planning of delivery in patients with achondroplasia. An outline of strategies was added as follow-up guidelines to specialists according to patient developmental phases, amongst them neurologic, orthopedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, the role of physical therapy, physical activity, phonoaudiology and other care related to the quality of life of patients and their families were discussed. Preoperative recommendations to patients with achondroplasia were also included. Conclusions: This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.
AB - Background: Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts’ recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries. Methods: Latin American experts (from Argentina, Brazil, Chile and Colombia) particiáted of an Advisory Board meeting (October 2019), and had a structured discussion how patients with achondroplasia are followed in their healthcare centers and punctuated gaps and opportunities for regional improvement in the management of achondroplasia. Results: Practical recommendations have been established for genetic counselling, prenatal diagnosis and planning of delivery in patients with achondroplasia. An outline of strategies was added as follow-up guidelines to specialists according to patient developmental phases, amongst them neurologic, orthopedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, the role of physical therapy, physical activity, phonoaudiology and other care related to the quality of life of patients and their families were discussed. Preoperative recommendations to patients with achondroplasia were also included. Conclusions: This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.
KW - Bone dysplasia
KW - Dwarfism
KW - FGFR3
KW - Guideline
KW - Management
KW - Medical practice
UR - https://www.scopus.com/pages/publications/85137009082
U2 - 10.1186/s12887-022-03505-w
DO - 10.1186/s12887-022-03505-w
M3 - Article
C2 - 35986266
AN - SCOPUS:85137009082
SN - 1471-2431
VL - 22
JO - BMC Pediatrics
JF - BMC Pediatrics
IS - 1
M1 - 492
ER -