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).
As I analyzed these cases I found that they invariably showed
FRANÇOIS J. A New SyndromeDyscephalia with Bird Face and Dental Anomalies, Nanism, Hypotrichosis, Cutaneous Atrophy, Microphthalmia, and Congenital Cataract. AMA Arch Ophthalmol. 1958;60(5):842-862. doi:10.1001/archopht.1958.00940080862005