Following Case will explain the Signs, symptoms and clinical picture of Marfanoid Habitus /Marfan Syndrome
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| Courtesy Of Dr. Tayyab Akhtar MO Holy Family Hospital Rawalpindi |
Q: It is the picture of hands of the same patient with TOF(Click Here to see previous Question) and suspected situs inversus with levo cardia. What abnormal findings can u pick? And what futher physical signs you would like to look for in this patient?
Below is the another picture of the same patient. Now what is your Provisional diagnosis?
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| Courtesy Of Dr. Tayyab Akhtar MO Holy Family Hospital Rawalpindi |
Answer:
In the Picture of hands, Apart from obvious clubbing the patient is having long fingers than usual. Clubbing can be explained from his underlying cardiac abnormality, but one of the differential of long fingers is Marfenoid Habbitus/syndrome.
¨So we must be looking for
¡Arm span
¡Trunk height ratio
¡ thumb sign
¡High arched palate
¡ Palate¡Lens abnormalities in the eyes
Now in the second picture, Patient arm span, length of the arms and palate of the patient has been showed.
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| Retinal Detachment: Eye ultrasound (B scan) |
Ocular
- Upward or downward lens dislocation
- Retinal detachment
Skeletal:
- Arachnodactyly (Abnormally long and slender fingers
- Tall with disproportionately long legs and arms, the span of the arms is greater than the height
- Pectus excavatum (Groove in the chest)
- Spinal abnormalities - spondylolisthesis ( Spondylolisthesis is a condition in which a bone (vertebra) in the lower part of the spine slips out of the proper position onto the bone below it), scoliosis
- Increased incidence of slipped upper femoral epiphysis
- Generalised joint laxity with predisposition to flat feet or dislocation of patella or shoulder
Cardiovascular
- Affecting the aortic and mitral valves and the ascending aorta:
- Dilatation of the aorta may be noted at any age, beginning at the aortic valve and usually confined to the ascending aorta
- Aortic insufficiency may result from stretching of the aortic valve ring and a dissecting aneurysm of the aorta may be a terminal event. Rarely, it occurs during pregnancy
- Mitral insufficiency results from redundant cusps and chordae tendineae
- Other cardiac malformations have occasionally been reported
Mental development is normal.
The average lifespan of an individual affected with marfanoid habitus / marfan syndrome is 40 to 50 years.
we well be looking for other signs and symptoms in this patient to further confirm the marfanoid habitus / marfan syndrome