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November 1958

A New SyndromeDyscephalia with Bird Face and Dental Anomalies, Nanism, Hypotrichosis, Cutaneous Atrophy, Microphthalmia, and Congenital Cataract

Author Affiliations

Ghent, Belgium
From the Ophthalmological Clinic of the University of Ghent.

AMA Arch Ophthalmol. 1958;60(5):842-862. doi:10.1001/archopht.1958.00940080862005

Introduction  The literature comprises 21 reports on cases showing very similar symptom complexes, sufficiently identical to be regarded as a well-defined clinical entity and as a new, autonomous syndrome to be linked into the long chain of heredity of ectodermal dysplasia.The cases which I culled from the literature were described under the following variety of names: sutural congenital alopecia (Aubry, 1893); congenital cataract with cranial anomaly (Bergmeister, 1911); progeria complicated by microphthalmia (Schondel, 1943); progeria with nanism and congenital cataract (Moehlig, 1946): bird face and congenital cataract (Hallermann, 1948); mandibulofacial malformation and ocular changes (Streiff, 1950; Nizetic, 1954); Vogt-Koyanagi-like syndrome with mandibulofacial dysostosis (Ludwig and Korting, 1950); dyscephalia with congenital cataract and hypotrichosis (Ullrich and Fremerey-Dohna, 1953; Weyers, 1954: Leffertstra, 1956); congenital ectodermal dysplasia (Gregory, 1955); progeria with ocular anomalies (Gregersen, 1956); mandibulofacial dysostosis (Blodi, 1957).

Positive Signs  As I analyzed these cases I found that they invariably showed

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