Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

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.

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.

Background: Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importance of elucidating the natural history and socioeconomic burden of this condition. Recognition that there are many potential issues for the patient with ACH is the first step in planning cost-effective interventions in Latin America (LATAM), a vast geographic territory comprising countries with multicultural characteristics and wide socioeconomic differences.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton.

Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012.

Introduction: Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities(1,2). Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis.

Goal: To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office.

Use of a soft tissue expander before surgical treatment of clubfoot in children and adolescents.

Primary closure of the skin after surgical correction of severe clubfoot is difficult, sometimes impossible. The authors describe a surgical technique with the use of a soft tissue expander prior to surgical treatment on clubfoot in children and adolescents. They operated on 13 feet (10 patients) with rigid clubfoot, with ages ranging from 3 to 16 years (average 10 years).