A client who is gravida 2 and 16 weeks of gestation comes in for her prenatal appointment.Her 2-year-old daughter is with her and is wearing a sleeveless top.While interacting with her daughter,you note axillary freckling and several café-au-lait spots (2 cm).In reviewing her chart,the nurse should assess for documentation of which genetic disease?
A) Tay-Sachs disease
B) Galactosemia
C) Neurofibromatosis (NF)
D) PKU

Question

A client who is gravida 2 and 16 weeks of gestation comes in for her prenatal appointment.Her 2-year-old daughter is with her and is wearing a sleeveless top.While interacting with her daughter,you note axillary freckling and several café-au-lait spots (>2 cm).In reviewing her chart,the nurse should assess for documentation of which genetic disease?
A) Tay-Sachs disease
B) Galactosemia
C) Neurofibromatosis (NF)
D) PKU

Quizplus · Accepted Answer

Clinical manifestations of NF may include axillary freckling and café-au-lait spots.Tay-Sachs disease is an incurable lipid-storage disorder and is not associated with café-au-lait spots.Galactosemia is an inborn error of metabolism and is also not associated with café-au-lait spots.PKU is not associated with café-au-lait spots.A child with PKU would have difficulty manufacturing the liver enzyme phenylalanine.

A Client Who Is Gravida 2 and 16 Weeks of Gestation