Nance-Horan syndrome, congenital cataracts and dental anomalies
Introduction: The presence of atypical dentofacial structures may be the first indicator of other congenital defects related to syndromes of likewise genetic origin. Nance-Horan syndrome is a monogenic X linked disorder phenotypically characterized by distinctive dysmorphic dental and craniofacial a...
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| Format: | Article |
| Language: | English |
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Editorial Ciencias Médicas
2020-09-01
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| Series: | Revista Cubana de Estomatología |
| Subjects: | |
| Online Access: | https://revestomatologia.sld.cu/index.php/est/article/view/3192 |
| _version_ | 1797322608596746240 |
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| author | Ana Maria Rodriguez Diaz Aida Perez Alfonso Noel Taboada Lugo Barbara Toledo Pimentel |
| author_facet | Ana Maria Rodriguez Diaz Aida Perez Alfonso Noel Taboada Lugo Barbara Toledo Pimentel |
| author_sort | Ana Maria Rodriguez Diaz |
| collection | DOAJ |
| description | Introduction: The presence of atypical dentofacial structures may be the first indicator of other congenital defects related to syndromes of likewise genetic origin. Nance-Horan syndrome is a monogenic X linked disorder phenotypically characterized by distinctive dysmorphic dental and craniofacial alterations, congenital cataracts and cognitive deficit.
Objective: Describe an unusual case of dental anomalies in the course of Nance-Horan syndrome.
Case presentation: A case is presented of a white male 13-year-old patient. Clinical examination revealed a dysmorphic pattern characterized by long narrow facies, prominent ears with auricular anteversion, a big nose with a high nasal bridge, generalized diastema in both arches, and all the teeth microdontic and abnormally shaped. Periapical radiological examination found short roots and broad pulp chambers. The personal pathological antecedents of the patient, the dysmorphic craniofacial pattern and the radiographs correspond to characteristics of other cases of Nance-Horan syndrome reported in the literature. Mutation of the Nance-Horan syndrome gene is completely expressed only in males. Since males are hemizygous for X linked genes, one copy of the mutated allele is sufficient for the appearance of a sex-linked recessive inheritance disease.
Conclusions: Evidence was found of the crucial importance of conducting careful examination, both clinical and radiographic, of patients with dental anomalies. Emphasis is placed on the joint work of various disciplines and specialties, both medical and dental. |
| first_indexed | 2024-03-08T05:16:46Z |
| format | Article |
| id | doaj.art-1f57442816b14e9dbb0dcbcfd503aa36 |
| institution | Directory Open Access Journal |
| issn | 0034-7507 1561-297X |
| language | English |
| last_indexed | 2024-03-08T05:16:46Z |
| publishDate | 2020-09-01 |
| publisher | Editorial Ciencias Médicas |
| record_format | Article |
| series | Revista Cubana de Estomatología |
| spelling | doaj.art-1f57442816b14e9dbb0dcbcfd503aa362024-02-06T21:35:50ZengEditorial Ciencias MédicasRevista Cubana de Estomatología0034-75071561-297X2020-09-01574e3192e31921057Nance-Horan syndrome, congenital cataracts and dental anomaliesAna Maria Rodriguez Diaz0Aida Perez Alfonso1Noel Taboada Lugo2Barbara Toledo Pimentel3Universidad de Ciencias Médicas de Villa Clara, Facultad de Estomatología, Departamento de Estomatología General Integral. Santa Clara, Villa Clara, Cuba.Universidad de Ciencias Médicas de Villa Clara, Facultad de Estomatología, Departamento de Ortodoncia. Santa Clara, Villa Clara, Cuba.Universidad de Ciencias Médicas de Villa Clara, Facultad de Medicina, Departamento de Genética Clínica. Santa Clara, Villa Clara, Cuba.Universidad de Ciencias Médicas de Villa Clara, Facultad de Estomatología, Departamento de Periodoncia. Santa Clara, Villa Clara, Cuba.Introduction: The presence of atypical dentofacial structures may be the first indicator of other congenital defects related to syndromes of likewise genetic origin. Nance-Horan syndrome is a monogenic X linked disorder phenotypically characterized by distinctive dysmorphic dental and craniofacial alterations, congenital cataracts and cognitive deficit. Objective: Describe an unusual case of dental anomalies in the course of Nance-Horan syndrome. Case presentation: A case is presented of a white male 13-year-old patient. Clinical examination revealed a dysmorphic pattern characterized by long narrow facies, prominent ears with auricular anteversion, a big nose with a high nasal bridge, generalized diastema in both arches, and all the teeth microdontic and abnormally shaped. Periapical radiological examination found short roots and broad pulp chambers. The personal pathological antecedents of the patient, the dysmorphic craniofacial pattern and the radiographs correspond to characteristics of other cases of Nance-Horan syndrome reported in the literature. Mutation of the Nance-Horan syndrome gene is completely expressed only in males. Since males are hemizygous for X linked genes, one copy of the mutated allele is sufficient for the appearance of a sex-linked recessive inheritance disease. Conclusions: Evidence was found of the crucial importance of conducting careful examination, both clinical and radiographic, of patients with dental anomalies. Emphasis is placed on the joint work of various disciplines and specialties, both medical and dental.https://revestomatologia.sld.cu/index.php/est/article/view/3192anomalías congénitasdefectos congénitosanomalías dentariascataratareporte de caso. |
| spellingShingle | Ana Maria Rodriguez Diaz Aida Perez Alfonso Noel Taboada Lugo Barbara Toledo Pimentel Nance-Horan syndrome, congenital cataracts and dental anomalies Revista Cubana de Estomatología anomalías congénitas defectos congénitos anomalías dentarias catarata reporte de caso. |
| title | Nance-Horan syndrome, congenital cataracts and dental anomalies |
| title_full | Nance-Horan syndrome, congenital cataracts and dental anomalies |
| title_fullStr | Nance-Horan syndrome, congenital cataracts and dental anomalies |
| title_full_unstemmed | Nance-Horan syndrome, congenital cataracts and dental anomalies |
| title_short | Nance-Horan syndrome, congenital cataracts and dental anomalies |
| title_sort | nance horan syndrome congenital cataracts and dental anomalies |
| topic | anomalías congénitas defectos congénitos anomalías dentarias catarata reporte de caso. |
| url | https://revestomatologia.sld.cu/index.php/est/article/view/3192 |
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