Natural history of 39 patients with Achondroplasia

Authors

  • Jose Ricardo Magliocco Ceroni Universidade de Sao Paulo. Faculdade de Medicina. Hospital das Clinicas. Instituto da Criança
  • Diogo Cordeiro de Queiroz Soares Universidade de Sao Paulo. Faculdade de Medicina. Hospital das Clinicas. Instituto da Criança
  • Larissa de Cássia Testai Universidade de Sao Paulo. Instituto de Biociencias. Centro de Pesquisas sobre o Genoma Humano e Celulas-TroncoInstituto de Biociencias.
  • Rachel Sayuri Honjo Kawahira Universidade de Sao Paulo. Faculdade de Medicina. Hospital das Clinicas. Instituto da Criança
  • Guilherme Lopes Yamamoto Universidade de Sao Paulo. Faculdade de Medicina. Hospital das Clinicas. Instituto da Criança
  • Luiz Antonio Nunes de Oliveira Universidade de Sao Paulo. Faculdade de Medicina. Hospital das Clinicas. Instituto da Criança
  • Debora Romeo Bertola Universidade de Sao Paulo. Faculdade de Medicina. Hospital das Clinicas. Instituto da Criança
  • Chong Ae Kim Universidade de Sao Paulo. Faculdade de Medicina. Hospital das Clinicas. Instituto da Criança

DOI:

https://doi.org/10.6061/clinics/2018/e324

Keywords:

Achondroplasia, Natural History, Growth, FGFR3

Abstract

OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis 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 1138G4A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The 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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Published

2019-02-13

Issue

Section

Original Articles

How to Cite

Ceroni, J. R. M., Soares, D. C. de Q., Testai, L. de C., Kawahira, R. S. H., Yamamoto, G. L., Oliveira, L. A. N. de, Bertola, D. R., & Kim, C. A. (2019). Natural history of 39 patients with Achondroplasia. Clinics, 73, e324. https://doi.org/10.6061/clinics/2018/e324