Multidisciplinary Management of Opitz G BBB Syndrome

Abstract

Opitz G BBB syndrome is a rare condition characterized by the 3 major anomalies of hypertelorism, cleft lip and palate, and hypospadias, although there may be other associated anomalies. The underlying genetic causes are complex and consist of both X-linked recessive and autosomal dominant forms of the disorder. Previously, there have been publications on the underlying genetics and case reports, but there have been few reports regarding the long-term outcome. The aim in this study was to review the range of clinical presentation and evaluate outcomes of the multidisciplinary management of a cohort of patients with Opitz G BBB syndrome. In a 25-year period, 7 patients with Opitz G BBB syndrome were managed by the Australian Craniofacial Unit (ACFU), 5 male and 2 female. Most of the patients are now reaching skeletal maturity. Each one presented with a range of severity in the triad of hypertelorism, cleft lip and palate, and hypospadias anomalies. The males all exhibited the triad of anomalies, while the females both had hypertelorism, only 1 had isolated cleft palate, and neither had any genitourinary anomalies. Each patient underwent multidisciplinary assessment to make a treatment plan for staged management of different anomalies. Plan for surgical corrections of facial anomalies were performed according to the unit's protocol management of both hypertelorism and cleft lip and palate, but the presence of these coexisting anomalies required adjustment of the standard protocol of management of cleft lip and palate. In conclusion, we recommend that patients with Opitz G BBB syndrome require careful evaluation, and management of the anomalies should be in a coordinated manner by a multidisciplinary team.

Tooth abnormalities and soft tissue alterations in patients with G/BBB syndrome

“…Twenty among the 21 patients presented at least one tooth abnormality, thereby indicating a high frequency, mainly hypoplastic alterations. The predominance of bilateral clefts (16 of 21 patients in the present study) agrees with previous reports in the literature (Parashar et al , 2005). The observation of unilateral or bilateral complete cleft lip and palate in the patients explains the high frequency of microdontia and agenesis of maxillary lateral incisors.…”

“…Few reports are available on the dental characteristics of individuals with G/BBB syndrome; there are reports of ankyloglossia (Gorlin et al , 1990; Brooks et al , 1992; Shaw et al , 2006), geographic tongue (Brooks et al , 1992), bifid tongue (Gorlin et al , 1990), tooth agenesis (Brooks et al , 1992), supernumerary teeth (Gorlin et al , 1990), different tooth abnormalities (Gorlin et al , 1990; Brooks et al , 1992; Parashar et al , 2005) and micrognathia (Gorlin et al , 1990).…”

“…With regard to the craniofacial morphology, there is increased length of posterior cranial fossa, lower anterior facial height and ANB angle (Brooks et al , 1992), mandibular hypoplasia (Opitz, 1987; Brooks et al , 1992; Parashar et al , 2005) and increase in the y‐axis (Brooks et al , 1992). The nose is broad and flat (Opitz, 1987; Parashar et al , 2005).…”

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

“…The syndrome receives its name from a combination of the names of the first families affected as well as the doctor who first recognized and described the pattern consistent with the syndrome [1, 2]. …”

Oral findings in Midline Syndrome: A case report and literature review

“…Specifically, some have been related to human midline and bilateral symmetry defects (1)(2)(3), for instance the Opitz G/BBB syndrome, hypospadias-dysphagia syndrome, a rare condition associated with midline abnormalities such as laryngotracheo-esophageal cleft, cleft lip and palate, heart anomalies, genito-urinary defects and agenesis of the corpus callosum (4). Its genetic etiology is complex, consisting of both X-linked recessive and autosomal dominant forms (5). The oro-facial-digital syndrome is a heterogeneous group of conditions.…”