A woman who is gravida 2 and 16 GW 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,you would assess for documentation of which genetic disease?

Question

A woman who is gravida 2 and 16 GW 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,you would assess for documentation of which genetic disease?

Quizplus · Accepted Answer

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

A Woman Who Is Gravida 2 and 16 GW Comes