Patients often have bowed legs or knock knees in which they usually cannot touch both knees and ankles together at the same time.The disorder is inherited in an X-linked dominant manner. This means the defective gene responsible for the disorder (PHEX) is located on the X chromosome, and only one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder. Males are normally hemizygous for the X chromosome, having only one copy. As a result, X-linked dominant disorders usually show higher expressivity in males than females.As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the sex of the parent carrying a specific gene and can often seem complex. This is because, typically, females have two copies of the X-chromosome and males have only one copy. The difference between dominant and recessive inheritance patterns also plays a role in determining the chances of a child inheriting an X-linked disorder from their parentage. Diagnosis
Begin clinical laboratory evaluation of rickets with assessment of serum calcium, phosphate, and alkaline phosphatase levels.
Comet tail reverberation, which is due to reflections from cholesterol crystals, is a highly specific sign for adenomyomatosis.On CT scan, it may show rosary sign, showing mucosal epithelium with intramural diverticula.Magnetic resonance imaging also plays an important role in the diagnosis of Rokitansky–Aschoff sinuses. In fat-suppression MRI, RAS present with small, rounded, high signal intensity foci, called “pearl necklace sign”. Eponym
Rokitansky–Aschoff sinuses are named after Carl Freiherr von Rokitansky (1804–1878), a pathologist in Vienna, Austria and Ludwig Aschoff (1866–1942), a pathologist in Bonn, Germany. See also
Cholecystectomy
Strawberry gallbladder
Diverticulum
Hyperplasia
Gallbladder

References
External links

00859 at CHORUS