I m worried my daughter may have marfans. It doesn t run in our family, but she has severe scoliosis (needs a spinal fusion in July) a sunkin in sternum, slightly blue sclera, and has the thumb thing as well as the ability to put her pinky and thumb around her wrist with an overlap. She is not too tall though. Can people without marfans have these symptoms together?
marfans syndrome presents classically with long bones and finger, craniofacial deformity and some characteristic sign. sunken sternum might be present. Child usually does not have blue sclera. Short stature is usually not seen.Thumb sign and wrist sign is important for diagnosis of MS. Osteogenesis imperfecta(OI) is another connective tissue disorder which presents with blue sclera, lax joints, scoliosis and short stature. It also results from abnormal collagen development. In order to reach to your diagnosis, Get a Echocardiography done to look for aortic root dilatation as seen in MS, also get a complete ophthalmological examination done to look for Ectopia lentis as seen in MS. Collagen studies using cultured fibroblasts are done to rule out OI. Also get an Xray long bones done to look for microfractures and brittle bones. Thanks and regards.
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