Congenital anomalies of the facial skeleton are intriguing. Of particular interest to the ophthalmologist is a specific variety of mandibulofacial dysostosis having the following peculiarities: l o c a l i z e d alopecia, beaked nose, microcornea, congenital cataract, and occasionally glaucoma. The cataracts are most unique in that spontaneous rupture and absorption frequently occur in this entity.
Recently, Francois (1958) has summarized, under the title "A New Syndrome," the evidence for a syndrome previously reported by Ullrich and Fremerey-Dohna (1953). This syndrome was described by the latter authors to be a dyscephaly with congenital cataracts and hypotrichosis. It is characterized by the following: a scapho(brachy)cephaly with hypoplasia of the mandible, a beak-like nose, congenital cataracts, and hypotrichosis localisata. Other less striking or more variable findings are small stature, microstomia, and anti-mongoloid palpebral fissure, maxillary hypoplasia, an ogive palate, anomalies of the dentition, and sexual immaturity. Ullrich and Fremerey-Dohna
FALLS HF, SCHULL WJ. Hallermann-Streiff Syndrome: A Dyscephaly with Congenital Cataracts and Hypotrichosis. AMA Arch Ophthalmol. 1960;63(3):409–420. doi:10.1001/archopht.1960.00950020411003
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: