Chapter 11 Flashcards
Clinical Correlates Only
A more serious defect occurring iin 1 per 20,000 individuals; characterized by the absence of pectoralis minor and partial loss of the pectoralis major (sternal head) muscles
Poland sequence
Syndactyly means
fused digits
Brachydactyly means
short digits
The disfiguring nature of the defects of Poland sequence can be problematic especially in
A. Males
B. Females
C. Either
D. Neither
B
Partial or complete absence of abdominal
musculature is called
Prune belly syndrome
Give the Diagnosis base on the following description:
Abdominal wall is so thin that the organs are visible and easily palpated
Prune belly syndrome
This defect is sometimes associated with malformations of the urinary tract and bladder including urethral obstruction.
Prune belly syndrome
Diagnosis
The nipple and aerola are absent or displaced
Poland sequence
These defect cause an accumulation of fluid that distends the abdomen, resulting in atrophy of the abdominal muscles.
Prune belly syndrome
Refers to a group of inherited muscle diseases that cause progressive muscular wasting and weakness
Muscular dystrophy
The most common type of muscular dystrophy
Duchenne muscular dystrophy (DMD)
This disease is inherited as X-linked recessive such that males are much more often affected than females.
Duchenne muscular dystrophy (DMD)
DMD and Becker muscular dystrophy (BMD) are caused by mutations in the gene for ________
dystropin (on the X chromosome)
True or False
In DMD, no functional dystrophin is made, and the disease is much more severe with an earlier on- set [<5 years of age versus 8 to 25 years of age in BMD
True
a cytoplasmic protein that forms a dystrophin-associated protein complex linking the cytoskeleton to the
extracellular matrix.
Dystropin
