Details

Autor(en) / Beteiligte

• Işık, Esra
• Darcan, Şükran
• Kavasoğlu, Ayşenur
• Atik, Tahir
• Onay, Hüseyin
• Şimşek, Damla Gökşen
• Durmaz, Asude
• Aykut, Ayça
• Çoğulu, Özgür
• Özkınay, Ferda

Titel

Anthropometric Measurements and Complications of Achondroplasia Patients

Ist Teil von

• Journal of clinical research in pediatric endocrinology, 2017-06, Vol.9 (1), p.22

Ort / Verlag

Istanbul: Galenos Publishing House

Erscheinungsjahr

2017

Link zum Volltext

Quelle

EZB Free E-Journals

Beschreibungen/Notizen

• Achondroplasia is the most common reason of inherited disproportionate short statue. It is caused by mutations in the FGFR3 (fibroblast growth factor receptor-3) gene. In this study, we aimed to evaluate the anthropometric measurements and complications in achondroplasia patients. In this study, using Sanger sequencing or next-generation sequence analysis, FGFR3 gene mutations were detected in 29 patients (achondroplasia/hypochondroplasia: 15/14) between 2012 and 2016. Nine of the 15 achondroplasia patients and one of the 14 hypochondroplasia patients had been followed by both Pediatric Genetics and Pediatric Endocrinology Subdivisions of Ege University Medical Faculty. Fifty percent of patients were female and 50% were male. Median age was 27 months (min 9-max 96 months). Anthropometric measurements of the patients were found to be in normal ranges using growth curves specific for achondroplasia patients reported by Horton et al. When evaluated according to normal growth curves, mean standard deviations of height, weight, and head circumference were -4.45 (±1.59), -1.38 (±1.15), and 1.99 (±1.20), respectively. In one patient, foramen magnum stenosis and cervicospinal junction compression were observed. Another patient had mental retardation and epilepsy. It has been considered that growth of achondroplasia patients can be maintained in the limits of achondroplasia patients when appropriate follow-up is performed. They should be carefully evaluated for neurological and orthopedic complications.