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ACMG practice guideline: genetic evaluation of short stature.

Seaver LH, Irons M, American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committ - Genet. Med. (2009)

Bottom Line: The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family.There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature.This guideline provides a rubric for the evaluation of short stature evaluation and summarizes common diagnoses and clinical testing available.

View Article: PubMed Central - PubMed

Affiliation: Kapi'olani Medical Specialists, Honolulu, Hawaii, USA. laurie.seaver@kapiolani.org

ABSTRACT
Short stature is a common indication for genetic evaluation. The differential diagnosis is broad and includes both pathologic causes of short stature and nonpathologic causes. The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family. There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature. This guideline provides a rubric for the evaluation of short stature evaluation and summarizes common diagnoses and clinical testing available.

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Diagnostic algorithm for genetic evaluation of short stature.
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f1-19451827: Diagnostic algorithm for genetic evaluation of short stature.

Mentions: A diagnostic approach to pathologic short stature is presented in Figure 1. This approach first requires that one differentiates between isolated short stature and short stature that is associated with other physical and/or developmental abnormalities. If the child falls within the latter group, the physician must then differentiate between proportionate and disproportionate short stature. A careful physical examination with measurements is necessary to determine whether there is a disproportionate body habitus.


ACMG practice guideline: genetic evaluation of short stature.

Seaver LH, Irons M, American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committ - Genet. Med. (2009)

Diagnostic algorithm for genetic evaluation of short stature.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3111030&req=5

f1-19451827: Diagnostic algorithm for genetic evaluation of short stature.
Mentions: A diagnostic approach to pathologic short stature is presented in Figure 1. This approach first requires that one differentiates between isolated short stature and short stature that is associated with other physical and/or developmental abnormalities. If the child falls within the latter group, the physician must then differentiate between proportionate and disproportionate short stature. A careful physical examination with measurements is necessary to determine whether there is a disproportionate body habitus.

Bottom Line: The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family.There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature.This guideline provides a rubric for the evaluation of short stature evaluation and summarizes common diagnoses and clinical testing available.

View Article: PubMed Central - PubMed

Affiliation: Kapi'olani Medical Specialists, Honolulu, Hawaii, USA. laurie.seaver@kapiolani.org

ABSTRACT
Short stature is a common indication for genetic evaluation. The differential diagnosis is broad and includes both pathologic causes of short stature and nonpathologic causes. The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family. There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature. This guideline provides a rubric for the evaluation of short stature evaluation and summarizes common diagnoses and clinical testing available.

Show MeSH
Related in: MedlinePlus