A surgical approach to the craniofacial defects of Opitz G/BBB syndrome

Abstract

Opitz syndrome is a rare genetic disorder which has been well defined; however, the surgical treatment of the anomalies has not been codified. The objective is to review the literature and describe the surgical priorities in the treatment of Opitz syndrome. This report is unique in the fact that it describes a surgical approach to the treatment of the deformities. Better outcomes are achieved with preoperative analysis of the deformities and surgical planning. Simultaneous soft tissues and bony reconstruction with grafts can achieve long lasting results and decrease recurrence rates.

Main genetic entities associated with supernumerary teeth

“…43,44 OPITZ G/BBB SYNDROME Opitz G/BBB syndrome is a rare genetically heterogeneous condition, with both an autosomal dominant form (OMIM 145410) which is caused by mutation in SPECC1L gene (OMIM 614140) located on chromosome 22q11. 2,46,47 responsible for the production of cytospin-A which interacts with cytoskeletal elements and microtubule stabilization, 48 and X-linked form (OMIM 300000) caused by mutation in MID1 gene (OMIM 300552) located on chromosome Xp22. 2,46,49 and produces the midline-1 protein responsible for microtubule binding.…”

“…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,…”