Dental treatment of a patient with Opitz G/BBB syndrome

Abstract

Opitz G/BBB syndrome is a genetic condition characterized by several abnormalities along the midline of the body, such as hypertelorism, craniofacial deformities, and dysphagia. This study reports the clinical features of Optiz syndrome and its importance in the knowledge of patients who are developmentally challenged as a whole, in order to establish adequate dental treatment for a certain clinical case. A 19-year-old patient visited the Paulista University for a dental treatment. The extraoral examination revealed ocular hypertelorism (wide-spaced eyes), oblique eyelids, epicanthus, low-set cart, and intellectual disability. During the intraoral examination, large caries lesions were observed surrounding the braces of the fixed orthodontic appliance and poor oral hygiene. Preventive and restorative treatments were carried out. It was concluded that the knowledge of patients with special needs as a whole is mandatory for an adequate dental treatment. This is a case report that highlights the importance of dentist and interdisciplinary care attendance for all patient systems, the examination and analyses should not be restricted to the oral cavity.

Main genetic entities associated with supernumerary teeth

“…48 Is characterized by several abnormalities along the midline of the body, 46 as craniofacial findings (craniosynostosis, 49 prominent forehead, widow's peak, 48 hooded eyelids, 49 hypertelorism, 46,48,49 broad and flat nose ,48,50 anteverted nares, 48 thin upper lip, 48,49 micrognathia, 50 low-set prominent ears), intraoral anomalies (high-arched palate, 48,49 cleft lip and/or palate, 46,49,51 ankyloglossia, 50,51 geographic tongue, 50 bifid tongue, 50,51 short lingual frenulum, 51 tooth agenesis, 50 ST, 50,51 bifid uvula), 51 velopharyngeal incompetence, laryngotracheal-oesophageal defects, 46,48 congenital heart disease, 46,48,49 renal anomalies, 49 hypospadias, 46,48,49 bifid scrotum, cryptorchidism, 48 and anal defects. 46,48,49 Furthermore, variable developmental delays, 48 learning disabilities, 49 neuropsychiatric disorders, symptoms consistent within the autism spectrum, 48 brain anomalies ,46,49 seizures, hearing loss, significant feeding problems, immune deficiency, hypocalcemia, growth hormone deficiency, autoimmune diseases and skeletal abnormalities. 49 The two i...…”

“…46,48,49 Furthermore, variable developmental delays, 48 learning disabilities, 49 neuropsychiatric disorders, symptoms consistent within the autism spectrum, 48 brain anomalies ,46,49 seizures, hearing loss, significant feeding problems, immune deficiency, hypocalcemia, growth hormone deficiency, autoimmune diseases and skeletal abnormalities. 49 The two inheritance pattern are clinically indistinguishable, 48 however, hypospadias and anal anomalies were found more commonly in male patients with MID1 mutations than in those without. 47…”

Principales entidades genéticas asociadas con dientes supernumerarios

“…El síndrome de Opitz G/BBB es una afección rara genéticamente heterogénea, que tiene un patrón autosómico dominante (OMIM 145410) causado por una mutación en el gen SPECC1L ( O M I M 6 1 4 1 4 0 ) , q u e s e e n c u e n t r a e n e l cromosoma 22q11.2, 46,47 responsable de producir la proteína citospina-A, que interactúa con los elementos citoesqueléticos y la estabilización de los microtúbulos, 48 o que se presenta vinculado al cromosoma X (OMIM 300000) y es causado por una mutación en el gen MID1 (OMIM 300552), que se encuentra en el cromosoma Xp22.2 46,49 y produce la proteína de la línea media-1, responsable de la unión a microtúbulos. 48 Esta entidad se caracteriza por varias anomalías a lo largo de la línea media del cuerpo, 46 por ejemplo, signos craneofaciales (craneosinostosis, 49 frente prominente, pico de viuda, 48 párpados caídos, 49 hipertelorismo, 46,48,49 nariz ancha y plana, 48,50 orificios nasales antevertidos, 48 labio superior delgado, 48,49 m i c r o g n a c i a , 5 0 o r e j a s p r o m i n e n t e s y d e implantación baja), anomalías intraorales (paladar ojival, 48,49 labio leporino o fisura palatina, 46,49,51 anquiloglosia, 50,51 lengua geográfica, 50 lengua bífida, 50,51 frenillo lingual corto, 51 agenesia dental, 50 DS, 50,51 úvula bífida), 51 insuficiencia velofaríngea, d e f e c t o s l a r i n g o t r a q u e o e s o f á g i c o s , 4 6 , 4 8 cardiopatía congénita, 46,48,49 anomalías renales, 49 hipospadias, …”

“…48 Esta entidad se caracteriza por varias anomalías a lo largo de la línea media del cuerpo, 46 por ejemplo, signos craneofaciales (craneosinostosis, 49 frente prominente, pico de viuda, 48 párpados caídos, 49 hipertelorismo, 46,48,49 nariz ancha y plana, 48,50 orificios nasales antevertidos, 48 labio superior delgado, 48,49 m i c r o g n a c i a , 5 0 o r e j a s p r o m i n e n t e s y d e implantación baja), anomalías intraorales (paladar ojival, 48,49 labio leporino o fisura palatina, 46,49,51 anquiloglosia, 50,51 lengua geográfica, 50 lengua bífida, 50,51 frenillo lingual corto, 51 agenesia dental, 50 DS, 50,51 úvula bífida), 51 insuficiencia velofaríngea, d e f e c t o s l a r i n g o t r a q u e o e s o f á g i c o s , 4 6 , 4 8 cardiopatía congénita, 46,48,49 anomalías renales, 49 hipospadias, 46,48,49 escroto bífido, criptorquidia 48 y defectos anales. 46,48,49 Además, se observan retrasos variables del desarrollo, 48 trastornos del aprendizaje, 49 trastornos neuropsiquiátricos, síntomas que coinciden con el espectro autista, 48 anomalías cerebrales,…”

“…46,48,49 Además, se observan retrasos variables del desarrollo, 48 trastornos del aprendizaje, 49 trastornos neuropsiquiátricos, síntomas que coinciden con el espectro autista, 48 anomalías cerebrales, 46,49 convulsiones, hipoacusia, problemas relevantes con la alimentación, inmunodeficiencia, hipocalciemia, deficiencia de la hormona del crecimiento, enfermedades autoinmunitarias y anomalías esqueléticas. 49 Ambos patrones de herencia son clínicamente indiferenciables; 48 sin embargo, en los varones con mutaciones en el gen MID1 se hallaron criptorquidia y anomalías anales con mayor frecuencia que en aquellos sin mutaciones. 47…”