Diagnosis Recessive myotonia congenita (Becker's disease). Management Explanation of the nature of the disease and treatment with mexiletine 200 mg twice daily. A 56-year-old woman with a history ...

Of added interest is the finding that 1 rabbit, offspring of a mother given thalidomide on the eighth and ninth days of pregnancy, appearing grossly normal at birth had aplasia of the left kidney ...

However, babies and children can be born with cataracts, or they may develop them as they age. A congenital cataract causes the same symptoms as adult cataracts—a clouding in the lens of the eye that ...

Cutis marmorata telangiectatica congenita is an uncommon vascular malformation composed of capillary and venous sized vessels. It presents with a distinct reticulated pattern that is reminiscent ...

Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD), often accompanied by defects in scalp ...

Background: Pure red cell aplasia (PRCA) is one of the important complications in major ABO-incompatible allogeneic hematopoietic stem cell transplantation (HSCT). The established pathogenic factor of ...

Background: Amyloidosis cutis dyschromica (ACD) is a rare type of primary localized cutaneous amyloidosis. Non-invasive techniques can provide important clues for early diagnosis. Objectives: To ...

Disclosure: No conflict of interest disclosed. Cutis aplasia, or disruption of the scalp, is a typical lesion in infants with Trisomy 13. Courtesy of David A. Clark, MD. Abnormal helix and low-set ...