Volume 2, Issue 3 , Pages 161-164, September 2007
Oculoauriculovertebral spectrum in two siblings
Article Outline
Summary
Oculoauriculovertebral spectrum (OAVS) represents a clinical continuum of craniofacial anomalies affecting the first and second branchial arches. They are characterized by eye and ear abnormalities, potentially severe facial asymmetry, as well as other well-described features. The occurrence of most cases is sporadic, but a few cases of familial inheritance are documented in the literature. This report documents two new cases of OAVS occurring in two siblings without other known affected relatives.
Keywords: Oculoauriculovertebral, Goldenhar, Hemifacial microsomia, Sibling pair
1. Introduction
Oculoauriculovertebral spectrum (OAVS) includes craniofacial anomalies such as hemifacial microsomia, Goldenhar syndrome, and the first and second branchial arch syndromes. OAVS generally affects structures of the first and second branchial arches, in addition to ocular and vertebral structures. As such, eye and ear abnormalities and facial asymmetry with mandibular involvement are common in many of these syndromes. As a spectrum, OAVS varies widely in terms of severity and expressivity with cases ranging from isolated microtia to hemifacial microsomia with auricular atresia and anophthalmia. Most cases of OAVS are sporadic; however, a few familial cases have been reported in the literature. As a result, this has generated a variety of pathogenetic theories. The following report describes the recent occurrence of OAVS in two siblings with no other known affected relatives.
2. Case report
The proband is a 5-year-old girl who is the second child of a healthy couple. The pregnancy was uncomplicated, and she was delivered at 8 lb. 10 oz. via Caesarian section due to breech position. At birth, she was noted to have a right grade II microtia, a right cheek soft tissue deficit, and a right vertical mandibular deficit with weakness of the marginal mandibular nerve (Fig. 1, Fig. 2, Fig. 3, Fig. 4, Fig. 5). The nose, lips and palate were intact. She exhibited a mild right-sided torticollis at birth as well as a lumbar fatty hump on the right. MRI of the spine and renal ultrasound were normal. She did not have noisy breathing and was feeding well. Tympanometry on follow-up was normal on the left but unobtainable on the right. Auditory thresholds were noted to be 85–95
dB HL on the right. She began walking at 11 months and was noted to have normal speech and language development with a 20-word vocabulary at 26 months. Two ear infections were documented per year on average. She underwent myringotomy with tympanostomy tube placement on the left twice. Genetics evaluation surmised her to be an isolated case of OAVS with a recurrence risk of ∼1%.
Fig. 1.
Elder sibling with soft tissue and vertical mandibular deficits of the right cheek.
Fig. 2.
Grade II microtia.
Fig. 3.
Paresis of the marginal mandibular nerve.
Fig. 4.
Dental photo demonstrating canting of the mandibular occlusal plane.
Fig. 5.
Panorex exhibiting right-sided vertical mandibular deficit.
The 22-month old sister of the proband, was delivered full-term via Caesarian section at 7 lb. 1 oz. She was noted to have right facial hypoplasia with a vertical deficit of the mandibular ramus (Fig. 6). No seventh cranial nerve palsy was noted. An asymmetric position of the right ear and aural stenosis were also documented. Her lips and palate were intact (Fig. 7). Newborn hearing screening was normal. Appropriate speech and language development have been noted.
Fig. 6.
Younger sister with vertical deficit of the mandibular ramus.
Fig. 7.
Slight canting of the mandibular occlusal plane.
3. Discussion
Hemifacial microsomia (HFM) is a common name used for the second most common congenital facial anomaly, following cleft lip and palate. It is considered a congenital malformation complex involving dysmorphogenesis of the facial skeleton, ear and facial soft tissues—including, most notably, mandibular hypoplasia. The following lists various classification systems of HFM. Goldenhar syndrome, as initially described in 1952, has features in common with HFM, in addition to eye and vertebral findings [1]. It is characterized by a triad of epibulbar dermoids, preauricular fistulae and skin appendages, and auricular malformations. In 1978, Feingold and Baum proposed that the diagnosis of Goldenhar's requires the presence of an eye abnormality (lipoma or lipodermoid of the conjunctiva, epibulbar dermoid or an upper lid coloboma) and two of the following three: (a) small size or abnormal shape of the ears or preauricular skin tags; (b) unilateral aplasia or hypoplasia of the mandibular ramus; (c) vertebral anomalies [2]. In 1983, Harvold et al. proposed a classification system of HFM consisting of four types [3]. Type I includes the classic type with unilateral facial underdevelopment; type II includes the limp deficiency type. Type III includes the frontonasal type, whereas type IV includes the Goldenhar type.
In 1990, Gorlin et al. coined the term oculoauriculovertebral spectrum (OAVS), which includes hemifacial microsomia, Goldenhar syndrome, facioauriculovertebral syndrome and the first and second branchial arch anomalies [4]. Subsequently, in 1993, Kumar et al. proposed minimum diagnostic criteria for OAVS to include at least two of the following: auricular hypoplasia, hemifacial microsomia, lateral facial cleft, epibulbar lipodermoid and/or upper eyelid coloboma, and vertebral anomalies [5]. As demonstrated by the plethora of classification systems proposed for HFM, there is inherent difficulty in establishing a classification system for a spectrum with a wide variety of manifestations. Whereas most systems have focused on two or three features, yet another nosologic system was developed by Vento et al. [6] and includes assessment of five major manifestations. The OMENS system grades the involvement of each of the following: orbital distortion, mandibular hypoplasia, ear anomaly, nerve involvement and soft tissue deficiency.
In general, patients with OAVS also commonly exhibit genitourinary and cardiac malformations as well as hearing loss and middle ear malformations. Some have development delay, though not the majority. It is generally accepted that OAVS represents a clinical continuum in which many of these previously described craniofacial anomalies belong, thereby eliminating some of the confusion over nomenclature.
In this report, although they did not meet all the described criteria, both the proband and her younger sister satisfied the minimum criteria of Kumar's for the OAVS diagnosis. Stoll et al. [7] published a similar finding of two siblings meeting diagnostic criteria for OAVS born to a mother with only unilateral otic hypoplasia. It was theorized that she possessed the OAVS trait, which is known to have variable expressivity and that she had passed the trait along to her two children in an autosomal dominant manner. The mother of the patients in this report was phenotypically normal, and there are no other known affected family members, suggesting a possible autosomal recessive nature with variable expressivity.
A wide variety of pathogenetic theories of OAVS exist and include genetic inheritance and malformation due to somatic mutation, environmental factors, and vascular and/or neural crest disruptive pathology. Most cases are sporadic as evidenced by the infrequent occurrence of familial cases and the usual discordance in monozygotic twins [8]. However, findings that support a genetic etiology include numerous reports both of affected individuals in successive generations and of affected siblings with normal parents (as in our published case) [7]. Furthermore, segregation analysis of 74 families of probands with OAVS favored an autosomal dominant inheritance, which is the most common hereditary form reported [9]. Etiologic heterogeneity is likely. In summary, consanguinity of the affected siblings, along with phenotypically normal parents, as documented in this report suggests autosomal recessive inheritance. The risk of recurrence in future children may be higher than the 1–2% reported for sporadic cases.
References
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- . Syndromes of the Head and Neck. New York: Oxford University Press; 1990;pp. 641–649, 707–708
- . Pattern of cardiac malformation in oculoauriculovertebral spectrum. Am. J. Med. Genet. 1993;46:423–426
- . The O.M.E.N.S. classification of hemifacial microsomia. Cleft Palate-Craniofacial J. 1991;28(1):68–77
- . A family with dominant oculoauriculovertebral spectrum. Am. J. Med. Genet. 1998;78:345–349
- . Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J. 1989;26(4):276–286
- . Oculoauriculovertebral anomaly: segregation analysis. Am. J. Med. Genet. 1992;43:913–917
PII: S1871-4048(07)00033-0
doi:10.1016/j.pedex.2007.04.007
© 2007 Elsevier Ireland Ltd. All rights reserved.
Volume 2, Issue 3 , Pages 161-164, September 2007
