Pycnodysostosis: A rare cause of short stature
نویسندگان
چکیده
منابع مشابه
Spondyloenchondrodysplasia: a rare cause of short stature.
Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in th...
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Skeletal dysplasia is an uncommon cause of short stature in children. An 11-year-old girl was evaluated for severe short stature in a tertiary care hospital. Clinical examination revealed severe disproportionate short stature and classical triad of multiple supernumerary teeth, and complete absence of clavicles and open sagittal sutures and fontanelles. Skeletal survey confirmed these findings,...
متن کاملShort stature Revealing a Pycnodysostosis: A Case Report
INTRODUCTION Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandib...
متن کاملNovel genetic cause of idiopathic short stature
Traditionally, the growth hormone - insulin-like growth factor I (GH - IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH - IGF-I axis, can present as idiopathic short stature (ISS). This pap...
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Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of o...
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ژورنال
عنوان ژورنال: Medical Journal Armed Forces India
سال: 2015
ISSN: 0377-1237
DOI: 10.1016/j.mjafi.2014.11.001