DWARFISM
DWARFISM: Excerpt from Differential Diagnosis in Primary Care
A list of possible causes of dwarfism may be developed anatomically,
physiologically, and biochemically. Visualizing the many organs of the body
is an excellent way to recall the causes. Beginning with the pituitary
one thinks of hypopituitarism and Lawrence–Moon–Biedl syndrome. The
thyroid suggests cretinism. The heart suggests the many congenital
anomalies there (e.g., tetralogy of Fallot) that are associated with
dwarfism. The GI tract suggests the malabsorption syndrome and its
many causes. The pancreas suggests cystic fibrosis. The kidney
suggests chronic nephritis with renal rickets. The bone suggests
rickets and achondroplasia. The brain suggests microcephaly and all
the other causes of mental retardation (such as Down syndrome) that are
associated with stunted growth. The ovary suggests Turner syndrome.
(This method will not help recall the primordial dwarf and some of the other
genetic dwarfs but it is a good start.)
Applying physiology and biochemistry, one must consider the intake of food
and oxygen, its absorption and transport, and its uptake by the cells and
excretion of waste products. For the regulation and promotion of this
metabolic process, adequate vitamins and hormones are essential. With these
processes in mind, one can recall the diseases that interfere with each.
Intake. Starvation and malnutrition cause dwarfism and
various vitamin deficiency states, rickets being the most significant.
Absorption. Malabsorption syndromes may create dwarfism by
preventing food and vitamins from getting into the body.
Transport. Congenital anomalies of the heart prevent
distribution of oxygen and glucose to the cells.
Cell uptake. Impaired cell uptake of glucose in diabetes may
cause a short stature; the bulging of the cells with glycogen in glycogen
storage disease may do the same. Galactosemia is a possible cause.
Reticuloendotheliosis and gargoylism may be recalled under this heading.
Excretion of waste products. This heading should help recall
renal rickets.
Regulation. This heading helps recall the hormonal deficiency
states: cretinism (deficiency of thyroxine), Turner syndrome (deficiencies
of estrogen and progesterone), and hypopituitarism (deficiency of growth
hormone). Poor function of all of the above would suggest progeria. The
adrenal carcinomas may cause precocious puberty and premature closure of the
epiphysis. The above method fails to include most of the genetic causes of
dwarfism, so perhaps this group can be remembered by its exclusion.
Approach to the Diagnosis
The workup of dwarfism should probably be done by an endocrinologist.
Many of the causes are genetic and untreatable, but it would be a shame to
miss cretinism, hypopituitarism, or Turner syndrome. All of these have
associated findings that should help to differentiate them, but
hypopituitarism may be very subtle. Cystic fibrosis can be diagnosed by a
sweat test. Down syndrome, Turner syndrome, and certain other genetic causes
can be determined by a chromosomal analysis.
Pictures
Book Source Details
- Book Title: Differential Diagnosis in Primary Care
- Author(s): R. Douglas Collins MD, FACP
- Year of Publication: 2007
- Copyright Details: Differential Diagnosis in Primary Care, Copyright © 2007 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.
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