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Overlap syndrome: a diagnostic dilemma.

Identifieur interne : 000E66 ( PubMed/Corpus ); précédent : 000E65; suivant : 000E67

Overlap syndrome: a diagnostic dilemma.

Auteurs : Kaushal Mahendra Shah ; Sampada Kanitkar

Source :

BMJ case reports [ 1757-790X ] ; 2012.

RBID : pubmed:23188871

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (genetics), Alopecia (diagnosis), Alopecia (genetics), Consanguinity, Craniofacial Abnormalities (diagnosis), Craniofacial Abnormalities (genetics), Diagnosis, Differential, Dwarfism (diagnosis), Dwarfism (genetics), Eyebrows (abnormalities), Humans, Joint Instability (diagnosis), Joint Instability (genetics), Male, Mouth, Edentulous (diagnosis), Mouth, Edentulous (genetics), Radiography, Panoramic, Skin Abnormalities (diagnosis), Skin Abnormalities (genetics), Syndrome, Tooth, Unerupted (diagnosis), Tooth, Unerupted (genetics), Young Adult.
MESH :
- abnormalities : Eyebrows.
- diagnosis : Abnormalities, Multiple, Alopecia, Craniofacial Abnormalities, Dwarfism, Joint Instability, Mouth, Edentulous, Skin Abnormalities, Tooth, Unerupted.
- genetics : Abnormalities, Multiple, Alopecia, Craniofacial Abnormalities, Dwarfism, Joint Instability, Mouth, Edentulous, Skin Abnormalities, Tooth, Unerupted.
- Consanguinity, Diagnosis, Differential, Humans, Male, Radiography, Panoramic, Syndrome, Young Adult.

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'.

DOI: 10.1136/bcr-2012-007458
PubMed: 23188871

Links to Exploration step

pubmed:23188871

Le document en format XML

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<author><name sortKey="Shah, Kaushal Mahendra" sort="Shah, Kaushal Mahendra" uniqKey="Shah K" first="Kaushal Mahendra" last="Shah">Kaushal Mahendra Shah</name>
<affiliation><nlm:affiliation>Department of Oral Medicine, Diagnosis and Radiology, Bharati Vidyapeeth Deemed University Dental College, Sangli, Maharashtra, India. thirty2creations@gmail.com</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kanitkar, Sampada" sort="Kanitkar, Sampada" uniqKey="Kanitkar S" first="Sampada" last="Kanitkar">Sampada Kanitkar</name>
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<term>Alopecia (genetics)</term>
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<term>Tooth, Unerupted (diagnosis)</term>
<term>Tooth, Unerupted (genetics)</term>
<term>Young Adult</term>
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<term>Craniofacial Abnormalities</term>
<term>Dwarfism</term>
<term>Joint Instability</term>
<term>Mouth, Edentulous</term>
<term>Skin Abnormalities</term>
<term>Tooth, Unerupted</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Consanguinity</term>
<term>Diagnosis, Differential</term>
<term>Humans</term>
<term>Male</term>
<term>Radiography, Panoramic</term>
<term>Syndrome</term>
<term>Young Adult</term>
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<front><div type="abstract" xml:lang="en">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'.</div>
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<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Int J Oral Maxillofac Surg. 1989 Aug;18(4):216-22</RefSource>
<PMID Version="1">2507672</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Int J Oral Maxillofac Surg. 1989 Dec;18(6):339-46</RefSource>
<PMID Version="1">2516101</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 1991 Mar;28(3):181-5</RefSource>
<PMID Version="1">2051453</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Am Dent Assoc. 1991 Oct;122(10):59-62</RefSource>
<PMID Version="1">1744347</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1995 May 8;56(4):382-8</RefSource>
<PMID Version="1">7604846</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Birth Defects Orig Artic Ser. 1988;24(2):205-27</RefSource>
<PMID Version="1">3052618</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Dermatologica. 1970;141(5):329-34</RefSource>
<PMID Version="1">5533438</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Ophthalmol. 1972 Jun;73(6):811-33</RefSource>
<PMID Version="1">4260695</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 1973 Jun;4(6):500-6</RefSource>
<PMID Version="1">4787841</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Adv Hum Genet. 1979;9:71-164</RefSource>
<PMID Version="1">160752</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Lancet. 1964 Apr 11;1(7337):832-3</RefSource>
<PMID Version="1">14108025</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 2001 Nov 15;104(1):84</RefSource>
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Overlap syndrome: a diagnostic dilemma.

Overlap syndrome: a diagnostic dilemma.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

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