SciELO - Scientific Electronic Library Online

 
vol.73UNIFESP Info Plastica – An informative application covering the most frequently performed plastic surgeries worldwideSerum Paraoxonase, Arylesterase, and Glutathione-S-Transferase Activities and Oxidative Stress Levels in Patients with Mushroom Poisoning author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Clinics

Print version ISSN 1807-5932On-line version ISSN 1980-5322

Abstract

CERONI, Jose Ricardo Magliocco et al. Natural history of 39 patients with Achondroplasia. Clinics [online]. 2018, vol.73, e324.  Epub July 02, 2018. ISSN 1807-5932.  http://dx.doi.org/10.6061/clinics/2018/e324.

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 1138G>A 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.

Keywords : Achondroplasia; Natural History; Growth; FGFR3.

        · text in English     · English ( pdf )