A woman who gives birth to a healthy male child has one older child who has been diagnosed with neurofibromatosis 1. What sign should the parents be instructed to look for in the new baby?
A) Increased urination
B) Projectile vomiting
C) Café-au-lait spots
D) Xanthoma
Ans: C
Feedback: Physical assessment may provide clues that a particular genetic condition is present in a person and family. Family history assessment may offer initial guidance regarding the particular area for physical assessment. For example, a family history of familial hypercholesterolemia alerts the nurse to assess family members for symptoms of hyperlipidemias (xanthomas, corneal arcus, and abdominal pain of unexplained origin). As another example, a family history of neurofibromatosis type 1, an inherited condition involving tumors of the central nervous system, prompts the nurse to carry out a detailed assessment of closely related family members. Skin findings such as café-au-lait spots, axillary freckling, or tumors of the skin (neurofibromas) warrant referral for further evaluation, including genetic evaluation and counseling. Increased urination could indicate type 1 diabetes. Projectile vomiting is indicative of pyloric stenosis.
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