| Literature DB >> 23188871 |
Kaushal Mahendra Shah1, Sampada Kanitkar.
Abstract
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'.Entities:
Mesh:
Year: 2012 PMID: 23188871 PMCID: PMC4544209 DOI: 10.1136/bcr-2012-007458
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X