Oculo-auriculo-vertebral spectrum is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis.
From a detailed clinical description of 259 individuals gathered through EUROCAT, assigned to cases of OAVS/Goldenhar/hemifacial microsomia we know some of the estimated the frequencies of observed anomalies:
Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were most frequent, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) epibulbar dermoid, iris coloboma and microphthalmia and orofacial clefts (17.8%).
The vertebral anomalies most often reported are hemivertebrae, block vertebrae, scoliosis/kyphoscoliosis, and spina bifida. The anomalies are mostly present in the cervical and thoracic spine and ribs.
Congenital heart defects have been reported in 5-58% of the individuals. The frequency of a particular type of cardiac anomalies did not differ from the frequency in the general population of the EUROCAT registries (2014) included in the study for the same period, with the exception of conotruncal defects. Congenital heart defects were not significantly associated with pulmonary or renal abnormalities.
Genitourinary malformations were the second most common group of anomalies in the EUROCAT cohort (15.8%), with renal agenesis and ureteral anomalies being most frequent.
Vertebral anomalies or congenital heart defects have a higher frequency of additional brain, limb or other malformations.
Intracranial vascular, bone, and brain abnormalities are common in OAVS patients. There can be detected by MRI or CT scan.
Feeding and swallowing impairment is present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities are strikingly common in OAVS. Their rate, features, and relationship with phenotype severity have yet to be defined.
OAVS with a radial defect (OMIM 141400), is considered a separate entity among OAVS.
Early diagnosis and long-term multidisciplinary management of individuals with OAVS should include proper evaluation of the all anomalies as part of OAVSpecrtum as well as the associated anomalies the need to perform an early screening of the heart, kidneys, and spine in all infants born with this disorder.
Eur J Hum Genet. 2014 Aug; 22(8): 1026–1033.Published online 2014 Jan 8. doi: 10.1038/ejhg.2013.287
In the total spectrum of OAVS are many syndromes. One of them is Goldenhar Syndrome (GHS). Goldenhar syndrome is a rare congenital defect in the...