Maxillofacial Changes in Melnick-Needles Syndrome
Background. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region. Case Presentation. This paper describes the c...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Dentistry |
| Online Access: | http://dx.doi.org/10.1155/2016/9685429 |
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| author | Leilane Larissa Albuquerque do Nascimento Monica da Consolação Canuto Salgueiro Mariana Quintela Victor Perez Teixeira Ana Carolina Costa Mota Camila Haddad Leal de Godoy Sandra Kalil Bussadori |
| author_facet | Leilane Larissa Albuquerque do Nascimento Monica da Consolação Canuto Salgueiro Mariana Quintela Victor Perez Teixeira Ana Carolina Costa Mota Camila Haddad Leal de Godoy Sandra Kalil Bussadori |
| author_sort | Leilane Larissa Albuquerque do Nascimento |
| collection | DOAJ |
| description | Background. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region. Case Presentation. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms of skeletal dysplasia, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies. Conclusion. Knowledge of this rare syndrome on the part of dentists is important due to the fact that this condition involves severe abnormalities of the stomatognathic system that cause an impact on the development of the entire face as well as functional and esthetic impairments. |
| format | Article |
| id | doaj-art-4852360f0193471aade4f86731566dd8 |
| institution | Kabale University |
| issn | 2090-6447 2090-6455 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Dentistry |
| spelling | doaj-art-4852360f0193471aade4f86731566dd82025-02-03T01:28:15ZengWileyCase Reports in Dentistry2090-64472090-64552016-01-01201610.1155/2016/96854299685429Maxillofacial Changes in Melnick-Needles SyndromeLeilane Larissa Albuquerque do Nascimento0Monica da Consolação Canuto Salgueiro1Mariana Quintela2Victor Perez Teixeira3Ana Carolina Costa Mota4Camila Haddad Leal de Godoy5Sandra Kalil Bussadori6Brazilian Association of Dentistry, 57037-240 Maceió, AL, BrazilPostgraduate Program in Biophotonics Applied to Health Sciences, Nove de Julho University, 01504-001 São Paulo, SP, BrazilBrazilian Association of Dentistry, 57037-240 Maceió, AL, BrazilNove de Julho University, 01504-001 São Paulo, SP, BrazilPostgraduate Program in Biophotonics Applied to Health Sciences, Nove de Julho University, 01504-001 São Paulo, SP, BrazilPostgraduate Program in Rehabilitation Sciences, Nove de Julho University, 01504-001 São Paulo, SP, BrazilPostgraduate Program in Biophotonics Applied to Health Sciences, Nove de Julho University, 01504-001 São Paulo, SP, BrazilBackground. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region. Case Presentation. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms of skeletal dysplasia, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies. Conclusion. Knowledge of this rare syndrome on the part of dentists is important due to the fact that this condition involves severe abnormalities of the stomatognathic system that cause an impact on the development of the entire face as well as functional and esthetic impairments.http://dx.doi.org/10.1155/2016/9685429 |
| spellingShingle | Leilane Larissa Albuquerque do Nascimento Monica da Consolação Canuto Salgueiro Mariana Quintela Victor Perez Teixeira Ana Carolina Costa Mota Camila Haddad Leal de Godoy Sandra Kalil Bussadori Maxillofacial Changes in Melnick-Needles Syndrome Case Reports in Dentistry |
| title | Maxillofacial Changes in Melnick-Needles Syndrome |
| title_full | Maxillofacial Changes in Melnick-Needles Syndrome |
| title_fullStr | Maxillofacial Changes in Melnick-Needles Syndrome |
| title_full_unstemmed | Maxillofacial Changes in Melnick-Needles Syndrome |
| title_short | Maxillofacial Changes in Melnick-Needles Syndrome |
| title_sort | maxillofacial changes in melnick needles syndrome |
| url | http://dx.doi.org/10.1155/2016/9685429 |
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