Overlap syndrome: a diagnostic dilemma.
Identifieur interne : 000E66 ( PubMed/Curation ); précédent : 000E65; suivant : 000E67Overlap syndrome: a diagnostic dilemma.
Auteurs : Kaushal Mahendra Shah [Inde] ; Sampada KanitkarSource :
- BMJ case reports [ 1757-790X ] ; 2012.
Descripteurs français
- KwdFr :
- Alopécie (diagnostic), Alopécie (génétique), Bouche édentée (diagnostic), Bouche édentée (génétique), Consanguinité, Dent incluse (diagnostic), Dent incluse (génétique), Diagnostic différentiel, Humains, Instabilité articulaire (diagnostic), Instabilité articulaire (génétique), Jeune adulte, Malformations crâniofaciales (diagnostic), Malformations crâniofaciales (génétique), Malformations cutanées (diagnostic), Malformations cutanées (génétique), Malformations multiples (diagnostic), Malformations multiples (génétique), Mâle, Nanisme (diagnostic), Nanisme (génétique), Radiographie panoramique, Sourcils (malformations), Syndrome.
- MESH :
- diagnostic : Alopécie, Bouche édentée, Dent incluse, Instabilité articulaire, Malformations crâniofaciales, Malformations cutanées, Malformations multiples, Nanisme.
- génétique : Alopécie, Bouche édentée, Dent incluse, Instabilité articulaire, Malformations crâniofaciales, Malformations cutanées, Malformations multiples, Nanisme.
- malformations : Sourcils.
- Consanguinité, Diagnostic différentiel, Humains, Jeune adulte, Mâle, Radiographie panoramique, Syndrome.
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
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<term>Alopecia (genetics)</term>
<term>Consanguinity</term>
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<term>Craniofacial Abnormalities (genetics)</term>
<term>Diagnosis, Differential</term>
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<term>Dwarfism (genetics)</term>
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<term>Alopécie (génétique)</term>
<term>Bouche édentée (diagnostic)</term>
<term>Bouche édentée (génétique)</term>
<term>Consanguinité</term>
<term>Dent incluse (diagnostic)</term>
<term>Dent incluse (génétique)</term>
<term>Diagnostic différentiel</term>
<term>Humains</term>
<term>Instabilité articulaire (diagnostic)</term>
<term>Instabilité articulaire (génétique)</term>
<term>Jeune adulte</term>
<term>Malformations crâniofaciales (diagnostic)</term>
<term>Malformations crâniofaciales (génétique)</term>
<term>Malformations cutanées (diagnostic)</term>
<term>Malformations cutanées (génétique)</term>
<term>Malformations multiples (diagnostic)</term>
<term>Malformations multiples (génétique)</term>
<term>Mâle</term>
<term>Nanisme (diagnostic)</term>
<term>Nanisme (génétique)</term>
<term>Radiographie panoramique</term>
<term>Sourcils (malformations)</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyebrows</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Alopecia</term>
<term>Craniofacial Abnormalities</term>
<term>Dwarfism</term>
<term>Joint Instability</term>
<term>Mouth, Edentulous</term>
<term>Skin Abnormalities</term>
<term>Tooth, Unerupted</term>
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<term>Bouche édentée</term>
<term>Dent incluse</term>
<term>Instabilité articulaire</term>
<term>Malformations crâniofaciales</term>
<term>Malformations cutanées</term>
<term>Malformations multiples</term>
<term>Nanisme</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Alopecia</term>
<term>Craniofacial Abnormalities</term>
<term>Dwarfism</term>
<term>Joint Instability</term>
<term>Mouth, Edentulous</term>
<term>Skin Abnormalities</term>
<term>Tooth, Unerupted</term>
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<term>Bouche édentée</term>
<term>Dent incluse</term>
<term>Instabilité articulaire</term>
<term>Malformations crâniofaciales</term>
<term>Malformations cutanées</term>
<term>Malformations multiples</term>
<term>Nanisme</term>
</keywords>
<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Sourcils</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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<term>Diagnostic différentiel</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mâle</term>
<term>Radiographie panoramique</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>
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<CommentsCorrections RefType="Cites"><RefSource>J Am Dent Assoc. 1991 Oct;122(10):59-62</RefSource>
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<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>
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</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Clin Genet. 1973 Jun;4(6):500-6</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Adv Hum Genet. 1979;9:71-164</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 2001 Nov 15;104(1):84</RefSource>
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