Literature DB >> 23188871

Overlap syndrome: a diagnostic dilemma.

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


  12 in total

1.  Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia.

Authors:  P J Crawford; M J Aldred; A Clarke
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

Review 2.  Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man.

Authors:  J M Opitz; J Herrmann; J C Pettersen; E T Bersu; S C Colacino
Journal:  Adv Hum Genet       Date:  1979

Review 3.  Using endosseous dental implants for patients with ectodermal dysplasia.

Authors:  A D Guckes; J S Brahim; G R McCarthy; S F Rudy; L F Cooper
Journal:  J Am Dent Assoc       Date:  1991-10       Impact factor: 3.634

Review 4.  Dental and oral abnormalities in selected ectodermal dysplasia syndromes.

Authors:  L S Levin
Journal:  Birth Defects Orig Artic Ser       Date:  1988

5.  Syndromology: an updated conceptual overview. I. Syndrome concepts, designations, and population characteristics.

Authors:  M M Cohen
Journal:  Int J Oral Maxillofac Surg       Date:  1989-08       Impact factor: 2.789

6.  The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin.

Authors:  K R Kenyon; H A Quigley; I E Hussels; R G Wyllie; M F Goldberg
Journal:  Am J Ophthalmol       Date:  1972-06       Impact factor: 5.258

7.  Biophysical and biochemical studies of the hair in cartilage-hair hypoplasia.

Authors:  C Kelling; L A Goldsmith; H P Baden
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438

8.  Abnormality of the hair in cartilage-hair hypoplasia.

Authors:  R L Coupe; R B Lowry
Journal:  Dermatologica       Date:  1970

Review 9.  Syndromology: an updated conceptual overview. VI. Molecular and biochemical aspects of dysmorphology.

Authors:  M M Cohen
Journal:  Int J Oral Maxillofac Surg       Date:  1989-12       Impact factor: 2.789

10.  Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).

Authors:  M L Martínez-Frías; M Urioste; E Bermejo; E Rodríguez-Pinilla; V Félix; L Paisán; S Martínez; J Egüés; F Gómez; P Aparicio
Journal:  Am J Med Genet       Date:  1995-05-08
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.