Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients

TLDR

The study characterizes the phenotypic spectrum of 294 patients with Oculoauriculovertebral dysplasia and its variants from a single craniofacial clinic. Patients were stratified into five subgroups based on minimal diagnostic criteria (microtia, mandibular hypoplasia, cervical spine anomalies, epibulbar or lipodermoid lesions), and demographic and phenotypic data—including sex, race, microtia laterality, mandibular asymmetry, and additional congenital anomalies—were recorded and compared with prior studies. Key findings include frequent mandibular asymmetry and bilateral microtia, high prevalence of additional malformations across all subgroups, a strong association between cervical spine anomalies and other defects, and the recommendation to screen for systemic anomalies to optimize management.

Abstract

Abstract Here we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with Oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature. The study population was divided into five subgroups based on the presence of combinations of minimal diagnostic criteria: microtia, mandibular hypoplasia, anomalies of the cervical spine and/or epibulbar or lipodermoids. The following data were recorded: (1) sex (M:F 191:103); (2) race (78% Caucasian); (3) the presence of unilateral or bilateral microtia (193 unilateral, 98 bilateral); (4) the presence of symmetric microtia in bilateral cases (34/98); (5) the presence of mandibular hypoplasia ipsilateral or contralateral to the microtic ear or most severely microtic ear in bilateral cases (135/137 were ipsilateral in unilateral cases, 55/62 were ipsilateral in bilateral cases); (6) the number of individuals with no Other congenital anomaly in addition to the minimal diagnostic criteria (154/294), with only one other congenital anomaly (51/294), and with two or more other congenital anomalies (89/294); and 7) the type of other congenital anomalies. Finally, we compared our results with other studies. Findings from our study include: (1) mandibular asymmetry should be expected in patients with unilateral or bilateral microtial; (2) bilateral involvement is frequent in patients with microtia; (3) other malformations are seen frequently in all subgroups; (4) anomalies of the cervical spine are more likely to be associated with other anomalies; and (5) other malformations are seen in all systems and should be searched for to provide optimal management.