Hemifacial Microsomia With Radial Defects

Clinical Features

Hemifacial microsomia with radial defects may be part of the spectrum of Goldenhar syndrome (164210), which is also referred to as oculoauriculovertebral spectrum (OAVS).

Hodes et al. (1981) described a patient with many clinical features of Goldenhar syndrome and ipsilateral radial defect. She had plagiocephaly, abnormalities of the left ear, facial asymmetry, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, patent ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. She lacked dermoids of the eye and eyelid colobomata. Fibroblasts from the unaffected right arm showed trisomy 7 mosaicism, whereas those from the affected left arm showed a normal karyotype. Of note, the mother took birth control pills and antihistamines during the first trimester of pregnancy.

Moeschler and Clarren (1982) described a young girl with oral cleft, multiple preauricular ear tags and pits, and skin tags along the mandibular angle, all on the right side. The right ramus of the mandible was extremely shortened. She had severe conductive hearing loss on the left and mild loss on the right as well as triphalangeal thumbs with duplication of the right thumb. The mother had a similar pattern of malformations: left hemifacial microsomia with marked microtia and atresia of the external auditory canal, very short left mandible with resultant facial asymmetry, profound hearing loss on the left with moderate loss on the right, and bilaterally duplicated triphalangeal thumbs, which were corrected in childhood. Moeschler and Clarren (1982) also reported 2 sporadic cases; in 1 case, the father was 47 years old. No renal or anal abnormalities were present.

Van Bever et al. (1992) reported 8 unrelated Brazilian patients with the oculoauriculovertebral complex and other anomalies. Three of the patients had accompanying radial ray anomalies, including triphalangeal thumb, radial deviation of the hand, hypoplasia of the bones of the arm and hand, and terminal hemimelia below the elbow. All cases had radial ray involvement ipsilateral to the facial anomalies.

Zelante et al. (1997) reported an infant with facial asymmetry, left mandible and malar hypoplasia, short left upper limb, and hypoplasia of the ipsilateral scapula. A left radial ray deficiency, with short forearm and absence of the radius and thumb was associated with a clubbed and radially deviated hand and absence of some of the phalanges. The child had multiple cardiac malformations and died at age 45 days. Zelante et al. (1997) noted that this patient would fit into the category of patients with so-called 'expanded' Goldenhar complex.

Vendramini et al. (2007) reported 14 unrelated Brazilian patients with sporadic OAVS with radial ray defects. The most common anomalies observed were facial asymmetry, mandible hypoplasia, cleft lip and/or palate, external, middle, and inner ear malformations, hearing loss, and vertebral defects. Radial anomalies included hypoplasia of the thumb and radius; 6 (42.8%) patients had bilateral radial ray involvement. Inner ear involvement was frequently observed (78.6% of cases), which is more common than in Goldenhar syndrome. In addition, patients with radial ray defects tended to have sensorineural hearing loss, low weight, and short stature. Vendramini et al. (2007) noted that, since extreme phenotypic variability is a main characteristic of OAVS and developmental anomalies are not restricted to facial structures, OAVS with radial ray anomalies may represent a subtype of OAVS. The authors emphasized that exclusion of Townes-Brocks syndrome (TBS; 107480) and Okihiro syndrome (DRRS; 607323) should be performed in this subset of patients.