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.

Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

Introduction: Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling.

Argentine and World Health Organization head circumference standards: A comparison study.

Introduction. Several studies have shown population differences in head circumference (HC) that question the universal validity of the World Health Organization (WHO) standard to assess head growth. Objectives.

Argentine reference charts for head circumference from birth to 19 years of age.

Introduction. Head circumference (HC) is an indicator of brain growth; growth charts are necessary to determine normal or pathological variations. Objectives.

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.

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.

Hereditary hypophosphatemic rickets and craniosynostosis.

Background: Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the usual treatment, and compare the characteristics with those of children without craniosynostosis.

Methods And Patients: An observational and retrospective cohort study was conducted.

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.

More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene implicated in the lethal disorder achondrogenesis (ACG1A). Here we report the clinical and radiological follow-up of four ODCD patients, including two siblings and an adult who interestingly has the mildest form observed to date. Four TRIP11 variants were detected, two previously unreported.

Skeletal dysplasias in Latin America.

Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.

Growth in achondroplasia, from birth to adulthood, analysed by the JPA-2 model.

Objectives: In general population, there are three phases in the human growth curve: infancy, childhood and puberty, with different main factors involved in their regulation and mathematical models to fit them. Achondroplasia children experience a fast decreasing growth during infancy and an "adolescent growth spurt"; however, there are no longitudinal studies that cover the analysis of the whole post-natal growth. Here we analyse the whole growth curve from infancy to adulthood applying the JPA-2 mathematical model.

[Recommendations for the assessment of birth size and postnatal growth of preterm newborns].

It is unquestionable the need to have standards of size at birth and growth to evaluate and contribute to guide the actions in the care of the newborn. For many years the references of Lejarraga and Fustiñana were used, progressively replaced by those of Fenton and Kim. However, recently, the INTERGROWTH-21st project has developed prescriptive growth standards to evaluate the size at birth from 33 weeks of gestational age, references from 24 to 32.

Evaluation of the INTERGROWTH-21st project newborn standard for neonatal phenotypes and neonatal morbidity and mortality.

Introduction: The use of local references or standard for neonatal studies still requires their validation through indicators of morbidity and mortality.

Objective: evaluate the performance of the INTERGROWTH-21st Project (IG-21) standard and a commonly used Argentinian reference (Urquia) by examining the differences in the frequency of growth phenotypes, and the associated neonatal morbidity and mortality.

Methods: Retrospective cohort study of all singleton live-births from Sarda Maternity Hospital (Buenos Aires, Argentina) between 33 and 42 gestational age, using information obtained from a Perinatal Surveillance System (Agustina) dataset between 1996-2001 (n = 25948).

Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 ( ) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.

SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.

A cohort study on the growth of 19 Argentinean children, aged 0 to 18 years, and 11 of their first-degree relatives with alterations in the gene or its regulatory regions is reported. Children are born shorter and experience a growth delay during childhood with a stunted pubertal growth spurt. Body disproportion, with a sitting height/height ratio above +2 standard deviation score (SDS), was already present as early as 2 years old.

A Prospective Study on Changes in Nutritional Status and Growth Following Two Years of Ketogenic Diet (KD) Therapy in Children with Refractory Epilepsy.

Introduction: Epilepsy is a neurological disorder characterized by an increased susceptibility to seizures. The ketogenic diet (KD) is currently the most important alternative non-pharmacological treatment. Despite its long history of clinical use, it is not clear how this diet affects longitudinal growth in children.

Height growth velocity during infancy and childhood in achondroplasia.

There is a lack of knowledge about longitudinal growth during childhood in achondroplasia. We report patterns of linear growth and height growth velocity references. The sample consisted of 84 children, 41 girls and 43 boys.

FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation.

Background Children with hypochondroplasia (HCH), who have FGFR3 mutations c.1620C>A or c.1620C>G (p.

Growth velocity and biological variables during puberty in achondroplasia.

Background: Achondroplasia is the most common form of inherited disproportionate short stature. Cross-sectional design studies of height show that, during childhood, height standard deviation scores (SDS) declines steadily and reaches a mean adult height at -6.42 and -6.

Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth.

Achondroplasia is the most common form of inherited disproportionate short stature. We report leg length, sitting height, and body proportion curves for achondroplasia. Seven centile format of sitting height, leg length, sitting height/leg length ratio, sitting height/height ratio, and head circumference/height ratio were estimated by the LMS method.

Argentine references for the assessment of body proportions from birth to 17 years of age.

Introduction: Abnormal body proportions may indicate skeletal disorders; therefore, their detection has great clinical significance.

Objetives: To estimate centiles for head circumference/height (HC/H) and sitting height/height (SH/H) ratios, and assess their diagnostic usefulness among a group of children with skeletal dysplasia.

Methods: Centiles 3, 10, 25, 50, 75, 90 and 97 for HC/H and SH/H ratios were estimated with the LMS method using Box-Cox transformation to normalize data distribution for each age.

[Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia].

Unlabelled: Asphyxiating thoracic dysplasia is an uncommon condition with multiple organ affectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment.

[Osteogenesis imperfecta: quality of life in children].

The impact produced by osteogenesis imperfecta in childrens' quality of life almost has not been reported; 65 children, 38 males, were evaluated according to the questionnaire PedsQL 4.0 Argentinean Spanish version. Median age was 7.