A. Prune belly syndrome occurs when the abdominal musculature is absent or very hypoplastic, most likely involving cells of the hypomere.
B. Poland's syndrome is a relatively uncommon chest anomaly that is characterized by the partial or complete absence of the pectoralis major muscle. Affected individuals may demonstrate partial agenesis of the ribs and sternum, mammary gland aplasia, or absence of the latissimus dorsi and serratus anterior muscles.
C. Congenital torticollis (wryneck) occurs when the sternocleidomastoid muscle is abnormally shortened causing rotation and tilting of the head. It may be caused by injury to the sternocleidomastoid muscle during childbirth, formation of a hematoma, and eventual fibrosis of the muscle.
D. Duchenne muscular dystrophy (DMD)
1. The characteristic dysfunction in DMD is progressive muscle weakness and wasting. Death occurs as a result of cardiac or respiratory failure, usually in a person's late teens or 20s.
a. The DMD gene, located on the short (p) arm of chromosome X in band 21 (Xp21), encodes for a protein called dystrophin. This protein anchors the cy-toskeleton (actin) of skeletal muscle cells to the extracellular matrix through a transmembrane protein (a-dystroglycan and (3-dystroglycan) and stabilizes the cell membrane.
b. A mutation of the DMD gene destroys the ability of dystrophin to anchor actin to the extracellular matrix.
3. DMD demonstrates an X-linked recessive inheritance, that is, males who have only one defective copy of the DMD gene from the mother have the disease.
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