DWARFISM
DWARFISM: Excerpt from Algorithmic Diagnosis of Symptoms and Signs
Ask the following questions:
- Is there disproportion of the trunk and extremities? These findings would suggest achondrodysplasia.
- Is there obesity? The finding of obesity would suggest Fröhlich's syndrome, Laurence-Moon-Bardet-Biedl syndrome, and Brissaud's infantilism.
- Is there appearance of wasting and/or malnutrition? The presence of wasting or other signs of malnutrition suggests chronic nephritis, congenital heart disease, progeria, malnutrition, and rickets.
- Is there an unusual appearance to the skull or face? These findings suggest mongolism, cretinism, microcephaly, hydrocephalus, and cleidocranial dysostosis, among other conditions.
- Are there abnormal secondary sex characteristics? The development of secondary sex characteristics is impaired in Turner's syndrome and pituitary dwarfism.
DIAGNOSTIC WORKUP
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones.
If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.
Book Source Details
- Book Title: Algorithmic Diagnosis of Symptoms and Signs
- Author(s): R. Douglas Collins
- Year of Publication: 2003
- Copyright Details: Algorithmic Diagnosis of Symptoms and Signs, Copyright © 2003 Lippincott Williams & Wilkins.
More About Turner Syndrome
More Medical Textbooks Online about Turner Syndrome
Review other book chapters online related to Turner Syndrome:
Medical Books Excerpts
- DWARFISM
- "Algorithmic Diagnosis of Symptoms and Signs" (2003)
- [ read ]
- DWARFISM
- "Differential Diagnosis in Primary Care" (2007)
- [ read ]
- DWARFISM
- "Differential Diagnosis in Primary Care" (2007)
- [ read ]
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
» Next page:
DWARFISM (Differential Diagnosis in Primary Care)
Rate This Website
What do you think about the features of this website?
Take our user survey and have your say:
Website User Survey
Medical Tools & Articles:
Next articles:
Tools & Services:
Medical Articles:
Forums & Message Boards
- Ask or answer a question at the Boards:
