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Children with short‐limbed short stature in pediatric endocrinological services in J apan
Author(s) -
Hasegawa Kosei,
Tanaka Hiroyuki
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12511
Subject(s) - achondroplasia , medicine , short stature , pediatrics , dysplasia , dwarfism , disease , genetics , biology , gene
Short‐limbed short stature is a heterogeneous condition that can result from many diseases such as bone disorder, metabolic disease, and multiple malformation syndrome. We conducted a questionnaire survey of council members of the Japanese Society of Pediatric Endocrinology and doctors of affiliated hospitals in 2010 to investigate short‐limbed short stature. Among 91 hospitals, responses were obtained from 61 hospitals (67% response rate). This study also examined data of 193 short‐limbed short stature patients, among whom FGFR 3 ‐related chondrodysplasia such as achondroplasia ( n = 109; 56.5%) was found the most frequently. Second to achondroplasia, hypochondroplasia ( n = 47; 24.4%) was the most frequently observed. Along with achondroplasia and hypochondroplasia, 31 patients with disorders of 13 other kinds and six undiagnosed patients were identified. Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondroplasia is a heterogeneous condition with many causes, only one of which is FGFR 3 mutation. We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having “hypochondroplasia”. In these patients, other diseases such as acromicric dysplasia, geleophysic dysplasia, and A arskog– S cott syndrome were included in addition to FGFR 3 ‐related hypochondroplasia ( n = 10). Clinical diagnosis of each disorder causing short‐limbed short stature is difficult. Therefore, not only clinical diagnosis but also genetic diagnosis play an important role in the diagnosis of short‐limb short stature. Diagnostic strategies must be created for each disorder.