She was referred by her cardiologist because of her tall stature and some finger deformity. She had eye surgery in childhood and was seen by a cardiologist for cardiomegaly and heart failure grade II. She has recently started complaining of dyspnea. No other similar case reported in the family.
Symptoms / Signs
- On physical exam she is tall, with thin and long arms, legs, fingers and toes, joint hyperflexibility, positive wrist and thumb signs, scoliosis, moderate pectus excavatum and arachnodactyly.
- Chest radiograph showed an enlarged heart.
- Spine X-ray showed scoliosis and heart echography showed grade II heart failure.
Previously Considered Diagnoses
- Marfan syndrome
Genetic Variants of Interest
- FBN1 Gene
Siblings, age & gender
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A is a 21 year old woman from a big family. She likes music, reading books, and traditional fashion clothing.