Develop. Med. Child Neurol. 1964, 6,406-407
R. W. Smithells
Oculo - Auriculo - Ver t eb r a1 Syndrome (Goldenhar’s Syndrome)
THE first description of this malformation syndrome is attributed to von Arlt (1845), and the eponym dates from a description of the condition by Goldenhar (1952). A more useful descriptive title-oculo-auriculo- vertebral dysplasia-has now been sug- gested by Gorlin et al. (1963) and is likely to receive wide acceptance. There have been few recent reports of the syndrome in the English language, but it is easily recognis- able at birth.
SkeIetaI Fused, bifid or supernumerary verte-
Defects or asymmetry of the skull; brae. Anomalous ribs.
frontal bossing.
Oral Micrognathia. Macrostomia.
Other Low anterior hair-line. Hypoplastic nostrils. Hemifacial microsomia. Congenital heart disease. Mental retardation has only been
present in 10 per cent of recorded cases.
Clinical Features The most obvious features of the syn-
drome are the preauricular appendages, which are often thick and fleshy, and the conjunctival dermoids-whitish, slightly raised, circular plaques in the scleral con- junctiva, which may overlap the edge of the cornea (limbal dermoids). The main features may be grouped as follows: Genetics
No hereditary pattern has been described Ocular for this syndrome, which clearly belongs to
the group which McKenzie (1958) calls the dermoids. first arch syndrome. Both sexes may be
affected and the condition has been seen in lid. one of identical twins. No chromosome
Conjunctival dermoids and/or lipo-
Colobomata, especially of the upper
Microphthalmia. studies have been reported.
Auricular Case-report The case illustrated in Figs. 1-3 is typical
and has not previously been published. The infant, a male, was born at full term to a healthy mother aged 23 years, but weighed
Skin tags and sinuses along the oro- tragal line (the line of fusion of the maxillary and mandibular pro- cesses).
Microtia. only 5 lb. (2.3 kg.). There had been one
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R. W. SMITH E L L S
previous pregnancy ending in a 12-week miscarriage. The mother had ‘influenza’ when 6 weeks pregnant and a urinary infection later.
At birth the infant was noted to have pre- auricular skin tags and sinuses, conjunctival dermoids, micrognathia, macrostomia, a short neck, cranium bifidum occultum, and congenitaI heart disease. He died at the age of 3 weeks, and necropsy revealed Fallot’s tetralogy with patent ductus arteriosus, anomalies of the cervico- dorsal spine and hypoplastic 2nd ribs.
Figs. 1 and 2. Oculo-auriculo-vertebral syndrome, showing pre-auricular appendages, micrognathia and short neck.
Fig. 3. Oculo-auriculo-vertebral syndrome. Cranium bifidum occulturn.
REFERENCES Ark, F. von (1845) Klinische Darstellung der Krankheiten des Auges. Wien, vol. 3, p. 376. Goldenhar, M. (1952) ‘Associations malforniatives de l’oeil et de I’oreille, en particulier le syndrome dermoide
epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo- faciale.’J. Ge‘ne‘t. hum., 1, 243.
Gorlin, R. J., Jue, K. L., Jacobsen, U., Goldschmidt, E. (1963) ‘Oculo-auriculo-vertebral dysplasia.’ J. Pediut., 63, 99 1.
McKenzie, J. (1958) ‘The first arch syndrome,’ Arch. Dis. Childh., 33, 447.
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