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Spectra of Defects


Oculo-Auriculo-Vertebral Spectrum (First and Second Branchial Arch Syndrome, Facio-Auriculo-Vertebral Spectrum, Hemifacial Microsomia, Goldenhar Syndrome)

The predominant defects in this spectrum represent problems in morphogenesis of the first and second branchial arches, sometimes accompanied by vertebral anomalies, renal defects, or ocular anomalies. The occurrence of epibulbar dermoid with this pattern of anomaly, especially when accompanied by vertebral anomalies, was designated as the Goldenhar syndrome, and the predominantly unilateral occurrence was designated as hemifacial microsomia. However, the occurrence of various combinations and gradations of this pattern of anomalies, both unilateral and bilateral, with or without epibulbar dermoid, and with or without vertebral anomalies, has suggested that hemifacial microsomia and the Goldenhar syndrome may simply represent variable manifestations of a similar error in morphogenesis. The frequency of occurrence is estimated to be 1 in 3000 to 1 in 5000, and there is a slight (3:2) male predominance.

Abnormalities

Variable combinations of the following, tending to be asymmetric and 70% unilateral.

  • Face. Hypoplasia of malar, maxillary, or mandibular region, especially ramus and condyle of mandible and temporomandibular joint; lateral cleft-like extension of the corner of the mouth (macrostomia); hypoplasia of facial musculature; hypoplasia of depressor anguli oris.

  • Ear. Microtia, accessory preauricular tags or pits, most commonly in a line from the tragus to the corner of the mouth; middle ear anomaly with variable deafness.

  • Oral. Diminished to absent parotid secretion, anomalies in function or structure of tongue, malfunction of soft palate.

  • Vertebral. Hemivertebrae or hypoplasia of vertebrae, most commonly cervical, but may also be thoracic or lumbar.

  • Central Nervous System. Hydrocephalus, Arnold-Chiari malformation, occipital encephalocele, agenesis of corpus callosum, calcification of falx cerebri, hypoplasia of septum pellucidum, enlarged ventricles, intracranial dermoid cyst, lipoma in corpus callosum, polymicrogyria.

Occasional Abnormalities

  • Eye. Epibulbar dermoid, lipodermoid, notch in upper lid, strabismus, microphthalmia.

  • Ear. Inner ear defect.

  • Oral. Cleft lip, cleft palate.

  • Cardiac. Ventricular and atrial septal defects, patent ductus arteriosus, tetralogy of Fallot, conotruncal defects, and coarctation of aorta, in decreasing order of frequency.

  • Genitourinary. Ectopic or fused kidneys, renal agenesis, vesicoureteral reflux, ureteropelvic junction obstruction, ureteral duplication, and multicystic dysplastic kidney.

  • Other. Intellectual disability (IQ below 85 in 13%), speech delay, autism, abnormal caruncles, branchial cleft remnants in anterior-lateral neck, laryngeal anomaly, hypoplasia to aplasia of lung, esophageal atresia, tracheomalacia caused by extrinsic vascular compression, radial and/or rib anomalies, prenatal growth deficiency, low scalp hairline.

Natural History

Reconstructive surgery is strongly indicated. Most of these patients are of normal intelligence. Intellectual disability is more common in association with microphthalmia. Deafness should be tested for at an early age.

Etiology

The cause of this disorder is unknown; cases are usually sporadic. Estimated recurrence in first-degree relatives is approximately 2%, although minor features of this disorder may be more commonly noted in relatives. When unilateral, it tends to be right-sided. Maternal diabetes has been associated in some cases. Del 22q11.2 has been reported in three cases. Based on studies utilizing an animal model, Poswillo concluded that this disorder was caused by interference with vascular supply and focal hemorrhage in the developing first and second branchial arch.

Comment

This spectrum occurs more frequently in one member of a monozygotic twin pair and has been seen in increased frequency following assisted reproductive techniques.

FIGURE 1, Oculo-auriculo-vertebral spectrum.

FIGURE 2, Note the variable features including the lateral cleft-like extension of the mouth (A), preauricular tags (B), and microtia (C). D, Encephalocele. E, Vertebral anomalies.

References

  • Goldenhar M.: Associations malformatives de l’oeil et de l’oreille. J Genet Hum 1952; 1: pp. 243.
  • Summitt R.L.: Familial Goldenhar syndrome. Birth Defects 1969; 5: pp. 106.
  • Pashayan H., et. al.: Hemifacial microsomia-oculo-auriculo-vertebral dysplasia: A patient with overlapping features. J Med Genet 1970; 7: pp. 185.
  • Baum J.L., Feingold M.: Ocular aspects of Goldenhar’s syndrome. Am J Ophthalmol 1973; 75: pp. 250.
  • Poswillo D.: The pathogenesis of the first and second branchial arch syndrome. Oral Surg 1973; 35: pp. 302.
  • Rollnick B.R., et. al.: Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26: pp. 631.
  • Cohen M.M., et. al.: Oculoauriculovertebral spectrum: An updated critique. Cleft Palate J 1989; 26: pp. 276.
  • Ritchey M.L., et. al.: Urologic manifestations of Goldenhar syndrome. Urology 1994; 43: pp. 88.
  • Nijhawan N., et. al.: Caruncle abnormalities in the oculo-auriculo-vertebral spectrum. Am J Med Genet 2002; 113: pp. 320.
  • Wang R., et. al.: Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. J Pediatr 2002; 141: pp. 611.
  • Strömland K., et. al.: Oculo-auriculo-vertebral spectrum: Associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet 2007; 143: pp. 1317.
  • Wieczorek D., et. al.: Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet 2007; 121: pp. 369.
  • Digilio M.C., et. al.: Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet 2008; 146: pp. 1815.
  • Digilio M.C., et. al.: Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. 2009; 149A: pp. 2860.

Oromandibular-Limb Hypogenesis Spectrum (Hypoglossia-Hypodactyly Syndrome, Aglossia-Adactyly Syndrome, Glossopalatine Ankylosis Syndrome, Facial-Limb Disruptive Spectrum)

Limb Deficiency, Hypoglossia, Micrognathia

In 1932, Rosenthal described aglossia and associated malformations. Kaplan and colleagues emphasized a “community” or spectrum of disorders and suggested common elements in modes of developmental pathogenesis.

Abnormalities

Various combinations from among the following features.

  • Craniofacial. Small mouth, micrognathia, hypoglossia, variable clefting or aberrant attachments of tongue; mandibular hypodontia; complete bony fusion of the maxilla and mandible, choanal atresia, cleft palate; cranial nerve palsies, including Moebius sequence; broad nose; telecanthus; lower eyelid defect; facial asymmetry.

  • Limbs. Hypoplasia of varying degrees, to point of adactyly; syndactyly, angel-shaped phalanx.

  • Other. Brain defects, especially of cranial nerve nuclei, causing Moebius sequence; splenogonadal fusion, hypoplasia of atlas with craniocervical junction malformation, gastroschisis.

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