Principal Anomalies   Study A  Study B  Study C      [8,9]  [7] [10] Head and Face (a)           Hemifacial microsomia* - 83% 84%   Macrocephaly - - 5%   Microcephaly - 8% -   Cleft lip/palate 15%-22%   18%   Macrostomia/ facial cleft 17%-62%   13%   Facial nerve palsy 10%-45%   - Ear Anotia or microtia*  66%-99% 100% b) 70%   Preauricular tags* 34%-61%   67%   Preauricular sinus/pit 6%-9%   7%   Hearing loss 50%-66% c) 85% 68% Ocular Epibulbar dermoids 4%-35% 22% 31%   Coloboma of the upper eyelid 12%-25% 8% 11%   Microphthalmia - 10% 12%   Orbital dystopia 15%-43% - -   Lacrimal duct atresia/stenosis 11%-14% - - Velopharyngeal insufficiency   35%-55% - - Vertebral anomalies   16%-60% d) 53% 35% Congenital heart defects   4%-33% 15% 27% Anomalies of extremities   3%-21% 12% - Developmental delay   - 9% e) 14% Central nervous system anomalies   5%-18% 17% f) 2% f) Urogenital anomalies   4%-15% 18%    7% g) Pulmonary anomalies   1%-15% - - Gastrointestinal anomalies   2%-12% - - a) mandibular, malar, maxillary, or facial muscular hypoplasia; b) described as microtia/preauricular tag; c) conductive hearing loss; d) vertebral/rib; e) delay of speech development; f) brain anomalies; g) renal anomalies; * minimal diagnostic criteria for OAVS

Table 1: Comparison of the prevalence of phenotypes from 158 published cases [7-10]. A- Summary of phenotype prevalence rates from 19 reports published between 1983 and 1996 as described by Cousley & Calvert, 1997 [8], and adapted by Heike & Hing, 2009 [9]. B- Clinical evaluation of 53 patients by Tasse et al, 2005 [7]; C- Analysis of a cohort of 86 patients by Rooryck et al, 2010 [10].