ABSTRACT
Orofaciodigital syndrome (OFD) is a group of hereditary disorders identified by malformations of the mouth (oris), face (facies), hands and feet (digitus=finger and toe). Although there are several different types reported in the literature, there is a great overlap in their clinical presentation. The full spectrum of all disorders due to OFD is not yet fully understood, since each patient shows variations in the expression of the syndrome. In the oral cavity, teeth are often affected by various alterations, such as dental caries, abnormal teeth, enamel hypoplasia, supernumerary teeth and dental agenesis. Treatment of a syndromic patient with a complex picture showing conditions such as palatine fissures and a severe hypodontia involves a multidisciplinary approach and a careful periodical follow-up.
Subject(s)
Orofaciodigital Syndromes/diagnosis , Orofaciodigital Syndromes/therapy , Dental Caries , Dental Enamel Hypoplasia , Follow-Up Studies , Humans , Tooth, SupernumeraryABSTRACT
The oral-facial-digital syndrome belongs to a group of hereditary diseases, manifested by multiple birth defects (usually, the face and fingers). At the current stage, there are 14 genetic variations of the oral-facial-digital syndrome. The presence of various abnormalities of the oral cavity, face and fingers is common for all of them, but each syndrome has a specific phenotype or type of inheritance. The etiology of this syndrome is unknown. It is inherited in an X-linked dominant pattern. Aim of the study: to describe and analyze the clinical case of oral-facial-digital syndrome. Data of the patient (Kira M., 11 months old): clinical-anamnestic examination, chest radiography, ultrasound investigation, molecular-genetic testing OFD1. Results Numerous miliae are detected on the face and ears of the child. Facial dysmorphy (large wide eyes, epicantus, wide nose bridge, telecantus, small mouth, small beak shaped nose, hypoplasia of the wings of the nose, small chin). The large fontanel is closed. Focal alopecia and dry hair are noted. Syndactyly of 2nd-3rd toes, asymmetrical shortening of the index finger of the right hand. Oral cavity examination reveals cleft palate, ankyloglossy and tongue lobulation. Transcranial ultrasonography: M echodex = 50.0 mm. M echosin = 52.0 mm. VIII = 6.9 mm (N up to 3.0 mm). V latdex = 24.4 mm, V latsin = 25.0 mm (N up to 16.0 mm). Neurologist's consultation: "Congenital brain malformation: agenesis of corpus callosum, congenital cerebral cysts." Ultrasound examination of the abdominal organs detected liver enlargement (anteroposterior size of the right lobe: 78 mm (N up to 65 mm), left lobe: 0.38 mm (+1.5 cm) Conclusion Oral-facial-digital syndrome type I is an inherited pathology, which in most cases is diagnosed immediately after birth on the basis of oral, facial and digital anomalies. Molecular genetic study makes it possible to confirm this disease and provide counseling to family members. Elimination of some developmental defects (hard palate plastic, correction of frenulum hyperthrophy), as well as a properly selected complex of therapeutic and rehabilitation measures greatly improves the quality of life of the patient and contributes to a favorable forecast.
Subject(s)
Orofaciodigital Syndromes/diagnosis , Pneumonia, Bacterial/complications , Anti-Bacterial Agents/therapeutic use , Anti-Inflammatory Agents/administration & dosage , Anti-Inflammatory Agents/therapeutic use , Female , Humans , Infant , Mutation , Orofaciodigital Syndromes/complications , Orofaciodigital Syndromes/genetics , Orofaciodigital Syndromes/therapy , Pneumonia, Bacterial/drug therapy , Proteins/genetics , Quality of Life , Treatment OutcomeABSTRACT
Varadi-Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare, autosomal recessive disorder characterised by a specific congenital malformation of the cerebellum and a broad spectrum of other phenotypic findings. It is distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Treatment for such patients is often considered challenging due to the presence of intellectual disability, hypotonia, and abnormal respiratory pattern in these patients. The present article reports the oral and systemic manifestations of a 5-year-old female patient having Varadi-Papp syndrome, considerations taken in her dental treatment and the successful management performed. The patient was followed up every 3 months for 2 years, to evaluate plaque control and to continue with the plaque control regimen. Periodic oral examinations and maintenance of good oral hygiene helped to improve the quality of life of the child. This case illustrates the favourable treatment outcomes in a Varadi-Papp syndrome patient. Furthermore, the need for periodic oral examinations and maintenance of good oral hygiene to prevent any complications in such patients has been highlighted.
Subject(s)
Orofaciodigital Syndromes/therapy , Child, Preschool , Dental Care , Dental Plaque , Female , Humans , Orofaciodigital Syndromes/pathology , Phenotype , Quality of LifeABSTRACT
Son muchos los síndromes que manifiestan alteraciones dento-esqueletales y, a su vez, manifiestan diferentes complicaciones, no permitiendo tener un protocolo definido para cada síndrome. Para establecer un adecuado protocolo de tratamiento, basado en tratamientos realizados exitosamente y tomando en cuenta los fracasos para no incurrir en el mismo error, se hizo una revisión bibliográfica desdemayo hasta septiembre de 2012, de artículos publicados en los últimos diez (10) años, de revistas internacionales de ortodoncia, ortopedia y cirugía maxilofacial que registraban estudios de investigación y casuística, en buscadores científicos como PubMed, Scielo, Medline. Posteriormente, se tomó la clasificación de Kenneth Lyons Jones, MD, en su obra literaria Patrones Reconocibles de Malformaciones Humanas (2007), tomando en cuenta para la elaboración de este trabajo, los que presentan craneosinostosis, defectos faciales mayores y defectos faciales y de las extremidades como características mayores, que ameritan tratamiento para corregir problemas dento-esqueletales. De los 39 artículos se seleccionaron 11 que tenían relevancia con su tema. Conocer y describir todos los síndromes, mencionando cada característica, es de suma importancia para los profesionales de la salud, ya que de ellos depende no sólo el correcto diagnóstico, sino el tratamiento más adecuado...
Subject(s)
Humans , Male , Adult , Female , Child , Jaw Abnormalities/therapy , Dental Care for Chronically Ill/methods , Orthodontics, Corrective/methods , Clinical Protocols/standards , Syndrome , Acrocephalosyndactylia/therapy , Craniosynostoses/therapy , Craniofacial Dysostosis/therapy , Genetic Diseases, X-Linked/therapy , Malocclusion/therapy , Osteotomy/methods , Patient Care Team , Oral Surgical Procedures/methods , Mobius Syndrome/therapy , Orofaciodigital Syndromes/therapySubject(s)
Brachydactyly/diagnosis , Facial Dermatoses/diagnosis , Hypotrichosis/diagnosis , Miliaria/diagnosis , Orofaciodigital Syndromes/diagnosis , Scalp Dermatoses/diagnosis , Brachydactyly/genetics , Brachydactyly/therapy , Child, Preschool , Facial Dermatoses/genetics , Facial Dermatoses/therapy , Female , Humans , Hypotrichosis/genetics , Hypotrichosis/therapy , Keratosis , Miliaria/genetics , Miliaria/therapy , Orofaciodigital Syndromes/genetics , Orofaciodigital Syndromes/therapy , Scalp Dermatoses/genetics , Scalp Dermatoses/therapyABSTRACT
Abnormal visceral patterning has been known for centuries. However, it has not been associated with ciliary dysfunction until recently. Overlapping clinical entities including situs inversus, certain infertility disorders, as well as chronic respiratory infections have their roots in abnormal ciliary function. Current research focuses on causative factors and genes involved in signal transduction pathways that define ciliary function and structure, as well as treatment. In this review, attempts are made to outline selected, yet key topics related to ciliary function in health and disease.
Subject(s)
Cilia/pathology , Ciliary Motility Disorders/therapy , Sperm Tail/pathology , Animals , Bardet-Biedl Syndrome/pathology , Bardet-Biedl Syndrome/therapy , Body Patterning , Ciliary Motility Disorders/diagnosis , Ciliary Motility Disorders/genetics , Ciliary Motility Disorders/pathology , Humans , Hydrocephalus/pathology , Hydrocephalus/therapy , Infertility, Male/pathology , Infertility, Male/therapy , Kartagener Syndrome/pathology , Kartagener Syndrome/therapy , Male , Mice , Orofaciodigital Syndromes/pathology , Orofaciodigital Syndromes/therapy , Polycystic Kidney Diseases/pathology , Polycystic Kidney Diseases/therapy , Retinitis Pigmentosa/pathology , Retinitis Pigmentosa/therapyABSTRACT
A case of oral-facial-digital syndrome was treated orthodontically. Characteristics of this case were mandibular protrusion with open bite. Occlusal stability after correction of this malocclusion was achieved with the uprighting of the posterior teeth, surgical reduction of the enlarged tonsils and highly attached tongue frenum, and oral functional training.
Subject(s)
Malocclusion, Angle Class III/therapy , Orofaciodigital Syndromes/therapy , Orthodontics, Corrective , Adolescent , Female , Humans , Lingual Frenum/surgery , Molar/surgery , Palatal Expansion Technique , Physical Therapy Modalities , Prognathism/therapy , Serial Extraction , Tongue Habits/therapy , TonsillectomyABSTRACT
Among the various features of the oro-facial-digital syndrome are characteristic malformations of the oral cavity. The syndrome is a genetic anomaly which also presents defects on the face and digits (upper and lower limbs). An early diagnosis is important for the treatment of oral manifestations from an odontologic viewpoint in order to minimize future problems. The treatment of malformations in the oral cavity should be carried out as a joint effort by Dental and Medical professionals
