Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment
| Autor: | Elzbieta Gawrych, Anna Biaduń-Popławska, Stanisław Zajączek, Ewa Studniak, Joanna Janiszewska-Olszowska, Aldona Dydyk |
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| Rok vydání: | 2013 |
| Předmět: |
Heart Defects
Congenital Male medicine.medical_specialty Cephalometry Genetic Linkage Craniofacial abnormality Developmental Disabilities Micrognathism Dentistry Chromosome Disorders Surgical Flaps Craniofacial Abnormalities Anodontia Tongue Periosteum Microstomia Palatal Muscles medicine Humans business.industry Mental Disorders Chromosomal fragile site Infant Newborn Mouth Mucosa Craniometry medicine.disease Dermatology Cleft Palate Nasal Mucosa stomatognathic diseases Hypodontia Otorhinolaryngology Dysplasia Surgery Chromosome Deletion Oral Surgery business Chromosomes Human Pair 16 Malocclusion Follow-Up Studies |
| Zdroj: | Journal of Cranio-Maxillofacial Surgery. 41:e29-e32 |
| ISSN: | 1010-5182 |
| DOI: | 10.1016/j.jcms.2012.06.002 |
| Popis: | Oro-palatal dysplasia Bettex-Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20mm intercommissural distance allows acceptable function without the need for surgical correction. |
| Databáze: | OpenAIRE |
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