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The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include:
During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant.
Examination of the infant after birth shows increased front-to-back head size. There may be signs of hydrocephalus ("water on the brain").
X-rays of the long bones can reveal achondroplasia in the newborn.
Horton WA, Hecht JT. Disorders involving transmembrane receptors. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 694.
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