Ocular plagiocephaly

Abstract

Associating horizontal ocular torticollis with facial asymmetry is an excellent observation. However, Greenberg and Pollard’s conclusion that the torticollis causes asymmetry should be revisited.Photographs of patients with Beckwith-Wiedemann syndrome show the typical facial asymmetry, nasal deviation, and head tilt being described.1Hunter A.G.W. Allanson J.E. Follow-up study of patients with Wiedemann-Beckwith syndrome with emphasis on the change in facial appearance over time.Am J Med Gen. 1994; 51: 102-107Crossref PubMed Scopus (22) Google Scholar, 2Stevenson RE, Meyer LC. Limbs. In: Stevenson RE, Hall JG, Goodman RM, eds. Human Malformations and Related Anomalies. New York: Oxford University Press, 1993; vol. 2, 778–9.Google Scholar Dental malocclusion, suggested in Figure 4, is also a feature.3Cohen Jr, M.M. Gorlin R.J. Feingold M. Bensel R.W. The Beckwith-Wiedemann syndrome. Seven new cases.Am J Dis Child. 1971; 122: 515-519Crossref PubMed Scopus (31) Google Scholar Somatic mosaicism is a cause of this condition,4Bischoff F.Z. Feldman G.L. McCaskill C. et al.Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.Hum Mol Genet. 1995; 4: 395-399Crossref PubMed Scopus (31) Google Scholar, 5Henry I. Puech A. Riesewijk A. et al.Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome a post fertilization event.Eur J Hum Gen. 1993; 1: 19-29PubMed Google Scholar and mosaicism has been implicated in other syndromes of hemihypertrophy and hemihypotrophy.6Johnston A.W. Congenital hemihypertrophy.BMJ. 1973; 1: 678Crossref PubMed Scopus (1) Google Scholar, 7Tulinius H. Tryggvason K. Hauksdottir H. 45,X-46,XY Chromosome mosaic with features of the Russell-Silver syndrome a case report with a review of the literature.Dev Med Child Neurol. 1972; 14: 161-172Crossref PubMed Scopus (17) Google ScholarThese genetic mutations also cause limb asymmetry, as well as facial asymmetry, and Greenberg and Pollard do not indicate having made such measurements. Even in the absence of limb asymmetry, it would be illogical to conclude that torticollis causes facial asymmetry if morphologically related conditions involve limb anomalies. Head tilt would not affect limb length. One would be more inclined to believe that whatever underlying cause leads to facial asymmetry also affects neurologic development, the orbit and its muscles, leading to nerve palsies, strabismus, and compensatory head postures. Associating horizontal ocular torticollis with facial asymmetry is an excellent observation. However, Greenberg and Pollard’s conclusion that the torticollis causes asymmetry should be revisited. Photographs of patients with Beckwith-Wiedemann syndrome show the typical facial asymmetry, nasal deviation, and head tilt being described.1Hunter A.G.W. Allanson J.E. Follow-up study of patients with Wiedemann-Beckwith syndrome with emphasis on the change in facial appearance over time.Am J Med Gen. 1994; 51: 102-107Crossref PubMed Scopus (22) Google Scholar, 2Stevenson RE, Meyer LC. Limbs. In: Stevenson RE, Hall JG, Goodman RM, eds. Human Malformations and Related Anomalies. New York: Oxford University Press, 1993; vol. 2, 778–9.Google Scholar Dental malocclusion, suggested in Figure 4, is also a feature.3Cohen Jr, M.M. Gorlin R.J. Feingold M. Bensel R.W. The Beckwith-Wiedemann syndrome. Seven new cases.Am J Dis Child. 1971; 122: 515-519Crossref PubMed Scopus (31) Google Scholar Somatic mosaicism is a cause of this condition,4Bischoff F.Z. Feldman G.L. McCaskill C. et al.Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.Hum Mol Genet. 1995; 4: 395-399Crossref PubMed Scopus (31) Google Scholar, 5Henry I. Puech A. Riesewijk A. et al.Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome a post fertilization event.Eur J Hum Gen. 1993; 1: 19-29PubMed Google Scholar and mosaicism has been implicated in other syndromes of hemihypertrophy and hemihypotrophy.6Johnston A.W. Congenital hemihypertrophy.BMJ. 1973; 1: 678Crossref PubMed Scopus (1) Google Scholar, 7Tulinius H. Tryggvason K. Hauksdottir H. 45,X-46,XY Chromosome mosaic with features of the Russell-Silver syndrome a case report with a review of the literature.Dev Med Child Neurol. 1972; 14: 161-172Crossref PubMed Scopus (17) Google Scholar These genetic mutations also cause limb asymmetry, as well as facial asymmetry, and Greenberg and Pollard do not indicate having made such measurements. Even in the absence of limb asymmetry, it would be illogical to conclude that torticollis causes facial asymmetry if morphologically related conditions involve limb anomalies. Head tilt would not affect limb length. One would be more inclined to believe that whatever underlying cause leads to facial asymmetry also affects neurologic development, the orbit and its muscles, leading to nerve palsies, strabismus, and compensatory head postures. Ocular plagiocephaly: Author’s replyOphthalmologyVol. 107Issue 12Preview Full-Text PDF