Armon K, Bale P. Identifying heritable connective tissue disorders in childhood. Practitioner 2012; 256 (1752):19-23

Identifying heritable connective tissue disorders in childhood

20 Jun 2012Pais-up subscribers

Heritable connective tissue disease is rare, each disorder estimated at 1-10 per 100,000. However, as a group they are prevalent enough to constitute an important diagnostic challenge. Connective tissue disorders most significantly affect three systems: musculoskeletal, ocular and cardiovascular. Awareness of these conditions in children and early suspicion in primary care provides the opportunity to initiate early and appropriate specialist management and surveillance, which can dramatically improve the outcome for your patients. The conditions often run in families and thus a thorough family history is important. Making a diagnosis in the child can have a positive outcome for other family members, as yet undiagnosed, who may benefit from intervention themselves. In children these conditions seldom require emergency admission at the time of first presentation and therefore you have time to consider the symptoms and signs and read around them before initiating appropriate referrals. [With external links to the evidence base]

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