TUBULAR BONE ALTERATIONS IN FAMILIAL SHORT STATURE
نویسندگان
چکیده
منابع مشابه
ACAN mutations as a cause of familial short stature
Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of ...
متن کاملA simple chart to identify non-familial short stature.
OBJECTIVE To develop a chart to identify non-familial short stature. DESIGN A height chart that adjusts for maternal, paternal, midparental, or sibling height based on the British 1990 height reference. MAIN OUTCOME MEASURE Height between 2 and 9 years of age. RESULTS The chart identifies children whose height is below the familially adjusted 0.4th centile, assuming a correlation of 0.4 b...
متن کاملShort Stature in Children
Accurate serial measurements of height and weight and an accurate record of growth are essential cornponents of the clinical evaluation of all children. Maintenance of a growth chart allows comparison of an individual child with a large population in terms of both percentile ranking and the determination of ‘ ‘ height age’ ‘ : the chronologic age at which the patient’s height falls on the 50th ...
متن کاملSyndromes with short stature
At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...
متن کاملShort stature with pigmentation.
Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented.
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198704010-00353