Auxological and anthropometric evaluation in skeletal dysplasias.
Anthropometry is the technique of expressing body shape in quantitative terms. The measurements are compared with the standard growth curves for the general population and expressed as a SD score or percentiles. The comparison of the different parameters with normal standards requires: standardized landmarks on the body, standardized methods of taking measurements, and standard equipment. Skeletal dysplasias generally present with disproportionate short stature, that may be caused primarily by a short trunk or short limbs. If short limbs are observed, the reduction may affect the proximal (rhizomelic), the middle (mesomelic) or distal (acromelic) segments. Anthropometric measurements should include all the segments of the arms and the legs with a comparison with the normal standards for height age. Short stature homeobox- containing (SHOX) gene defects determine a highly variable phenotype, that includes an osteochondrodysplasia with mesomelic short stature and Madelung deformity, but also presentations without evident malformations. Anthropometric indicators of SHOX deficiency are: disproportionate short stature, reduction of lower limb, reduction of the ratio between arm span and forearm length with respect to height, increase in the sitting/ height stature ratio, increase in limb circumference (arm, forearm, thigh, and leg) with respect to height and increased body mass index. In some forms of skeletal dysplasias and in particular in SHOX gene anomalies that have many characteristics superimposable to idiopathic short stature, only an accurate auxo-anthropometric and dysmorphologic evaluation enable us to propose, fairly accurately, the subjects for the gene study.
Rare Disease, Syndromology and Auxology Unit, Department of Pediatrics, S Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy. laura.mazzanti@unibo.it
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L
Mazzanti
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Matteucci
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Scarano
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Tamburrino
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Ragni
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Cicognani
D000886:Anthropometry / Q000379:methods*; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003677:Deficiency Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D000074122:Short Stature Homeobox Protein
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein