Metabolic Bone Disease
A 7-year-old girl is referred to the orthopaedic clinic with a limp and thigh pain. Examination reveals a leg length discrepancy of 2 cm with the left leg longer. She has multiple irregular, coast of Maine-bordered pigmented skin lesions on her left trunk and thigh. Radiographs show ground-glass lesions in the proximal left femur with a shepherd's crook deformity. Her parents report she had breast development at age 4. Regarding McCune-Albright syndrome:
Mark each as TRUE or FALSE
McCune-Albright syndrome is characterized by the classic triad of polyostotic fibrous dysplasia, caf...
The GNAS mutation results in constitutive activation of adenylyl cyclase leading to increased cAMP p...
McCune-Albright syndrome is inherited in an autosomal dominant pattern with complete penetrance; gen...
Cafe au lait macules in McCune-Albright syndrome characteristically have irregular, jagged borders d...
Endocrinopathies in McCune-Albright syndrome include peripheral precocious puberty (gonadotropin-ind...
Answer the questions to see explanations
Click T (True) or F (False) for each option