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Cytogenetic studies were conducted in 25 cases (21.6%), including one patient who had a karyotype of 46,XX,del(5)(q13q34). Among the patients, two had a familial history of OAVS and one fulfilled all three criteria for diagnosing Strmland et al.88. Strmland K, Miller M, Sjgreen L, et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible development risk factors. Am J Med Genet A. 2007;143A(12):1317-25.
Among the patients with no chromosomal rearrangement, no family history of OAVS and a good prognosis, the ages of the patients ranged from 0 days to 32 years. There was no predilection for sex and most patients (53%) did not fulfill all three criteria of Strmland et al.88. This latter group could not be divided into distinct subgroups based on their clinical and developmental phenotypes. Figure 1. The major clinical manifestations associated with OAVS are clinical (A), gestational (B) and minor (C). OAVS: oculo-auriculo-vertebral spectrum; H: hemangioma; E: electroencephalogram; CNS: central nervous system; OM: ophthalmological manifestations. Figure 2. A: Study of fetal ultrasound showing asymmetrical growth restriction of the fetus. B: Case 14 at the 25th week of gestation. An ovarian cyst is seen in the posterior abdominal wall on the left side. C: Case 18 at the 29th week of gestation. There is polyhydramnios and the fetal left hand shows asymmetry. There is no evidence of the fifth digit. D: Case 20 at the 31st week of gestation. There is polyhydramnios and the left hand shows asymmetry. There is no evidence of the fifth digit. E: Case 18 at the 29th week of gestation. There is asymmetrical fetal growth restriction on the left side. F: Case 8 at the 20th week of gestation. There is fetal growth restriction with asymmetry on the left. G: Case 17 at the 24th week of gestation. There is fetal asymmetry on the left side, and a tumor in the left arm. H: Case 16 at the 24th week of gestation. There is fetal asymmetry on the left side, and a tumor in the left arm. I: A fetus with the typical deformed right ear. J: A fetus with the typical deformed left ear. K: A fetus with the typical deformed right and left ear. L: A fetus with bilateral asymmetrical auricular deformity. OAVS: oculoauriculo-vertebral spectrum; H: hemangioma; E: electroencephalogram; CNS: central nervous system; OM: ophthalmological manifestations. Figure 3. A: Ultrasound examination at the 19th week of gestation, revealing a monozygotic twin with a left ocular bifurcation without typical ocular auricular deformity (D) and an asymmetric right ear (E). B: Ultrasound examination at the 20th week of gestation, revealing a fetus without ocular bifurcation (A) and an asymmetric right ear (B).
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