Observational studyClinics (Sao Paulo, Brazil)2018
Natural history of 39 patients with Achondroplasia.
Observational study in Clinics (Sao Paulo, Brazil), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.Orphanet journal of rare diseases · 2022Pooled it
- Spondylo-ocular syndrome: xylosyltransferase 2 gene mutation and clinical observations-a case report.Journal of medical case reports · 2026Article
- Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.European journal of pediatrics · 2024Article
- The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys.Journal of endocrinological investigation · 2024Article
- Review of published 467 achondroplasia patients: clinical and mutational spectrum.Orphanet journal of rare diseases · 2024Review
- Anesthetic management of parturients with achondroplasia: a case series.Proceedings (Baylor University. Medical Center) · 2024Article
- Australian guidelines for the management of children with achondroplasia.Journal of paediatrics and child health · 2023Article
- Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.BMC pediatrics · 2022Article
- [Clinical features andZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases.Paediatric drugs · 2019Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments.
methodsObservational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016.
resultsDiagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G>A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years).
conclusionsThe diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.
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