Overlap syndrome: a diagnostic dilemma.

BMJ Case Rep

Department of Oral Medicine, Diagnosis and Radiology, Bharati Vidyapeeth Deemed University Dental College, Sangli, Maharashtra, India.

Published: November 2012

We report an interesting case of a young patient who came with a concern for missing teeth and lack of hair on scalp and body. Examination revealed complete absence of teeth, absence of eyebrows, eyelashes and hair over scalp. He was short-statured, had hyperextensible joints and hyperelastic skin, protuberant lips and many other anomalies such that the overall pattern of defects was not recognisable. A wide array of investigations involving the dental and medical faculties were done; however, the final diagnosis could not be reached, since it appeared to involve features of more than one syndrome, thus the name 'overlap syndrome'.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544209PMC
http://dx.doi.org/10.1136/bcr-2012-007458DOI Listing

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