Examination reveals long thin extremities and arachnodactyly


#1

A young patient has been brought to see his GP as his chest sticks out more compared to his siblings. Examination reveals long thin extremities and arachnodactyly. Nothing else is of note. What is the diagnosis?

1.Ehlers danlos syndrome
2.Klinefelter syndrome
3.Marfans syndrome
4.Acromegaly
5.Fragile x syndrome

solution

Long slender limbs, pectus carinatum, thin fingers and nearsightedness all point towards Marfans syndrome. Ehlers Danlos syndrome classicly displays hyperflexibility, skin hyperextensibility, easy bruising and wide scars.