Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

Abstract

Context and objective: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS.

Design and setting: Cross-sectional study in a referral hospital in southern Brazil.

Methods: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia.

Results: Cytogenetic abnormalities were observed in three cases (13%) and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10)(q13; q24). We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma.

Conclusions: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients.

Table 1.. Clinical characteristics of patients with oculoauriculovertebral spectrum (OAVS) in our sample

Figure 1.. Obstetric ultrasound showing increased resistance of umbilical artery of fetus I (with oculo-auriculo-vertebral spectrum) and difference in abdominal circumference between fetus I (abnormal) and fetus II (normal).

Figure 2.. Craniofacial aspect of the twins. The patient with the phenotype of oculo-auriculo-vertebral spectrum can be seen on the left (permission was obtained from the patients’ parents for presentation).

Figure 3.. Craniofacial appearance of the twin with oculo-auriculo-vertebral spectrum. Note especially the preauricular skin tags, low-set ears (A and B) and epibulbar dermoid (C).

Figure 4.. Radiographs of the oculo-auriculo-vertebral spectrum twin showing hypoplasia of the left mandible, and vertebral and rib abnormalities (including hemivertebrae and butterfly vertebrae) (A and B).

Figure 5.. Details of the patients presenting atypical findings. Note lower-limb reduction defect (patient 5) and tumor in the distal portion of the right arm, suggestive of a hemangioma/lymphangioma (patient 15) (permission was obtained from the patients’ parents for presentation).