Friday, September 25, 2015

She had pulmonary stenosis treated in infancy.

You are reviewing a 17-year-old girl who has been transferred from the paediatric service.  She had pulmonary stenosis treated in infancy.

example of other chromosomal disorders 


 She has learning difficulties and facial dysmorphism.

Which one of the following is not in the differential diagnosis?


A. Holt–Oram syndrome
B. N oonan syndrome
C. 22q11 microdeletion syndrome
D. L oeys–Dietz syndrome
E. C ostello syndrome


Ans is A : Holt–Oram syndrome causes septal defects, AV node disease, and radial ray
abnormalities, but not pulmonary stenosis. In addition, it is not associated with learning
difficulties.


What is Holt-Oram syndrome?

Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.
 HOLT ORAM SYNDROME
People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by x-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. These skeletal abnormalities may affect one or both of the upper limbs. If both upper limbs are affected, the bone abnormalities can be the same or different on each side. In cases where the skeletal abnormalities are not the same on both sides of the body, the left side is usually more severely affected than the right side.
About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) problems, which can be life-threatening. The most common problem is a defect in the muscular wall (septum) that separates the right and left sides of the heart. A hole in the septum between the upper chambers of the heart (atria) is called an atrial septal defect (ASD), and a hole in the septum between the lower chambers of the heart (ventricles) is called a ventricular septal defect (VSD). Some people with Holt-Oram syndrome have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated contraction of the heart muscle (fibrillation). Cardiac conduction disease can occur along with other heart defects (such as ASD or VSD) or as the only heart problem in people with Holt-Oram syndrome.
The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome; however, these two disorders are caused by mutations in different genes.

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