G. Frank Judisch

Shprintzen-Goldberg syndrome: a clinical analysis.

Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later. The clinical and radiologic findings on our patients are compared with those of the previously reported patients and also with those of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224], who share many of the characteristics of Shprintzen-Goldberg syndrome. Some of the clinical data are helpful in determining if the patients of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a variant of Shprintzen-Goldberg syndrome. However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus.

Rieger's Syndrome: A Case Report With a 15-Year Follow-up

A 15-year follow-up examination of a boy with Riegers syndrome showed that the anterior segment changes in this disease may be slowly progressive in the absence of glaucoma or miotic treatment. The patient also had two recently recognized systemic features of the syndrome, umbilicus cutis and hypospadias.

Early-Onset Autosomal Dominant Retinitis Pigmentosa With Severe Hyperopia

We studied a four-generation family with early-onset autosomal dominant retinitis pigmentosa, severe hyperopia, and axial eye lengths of less than 20 mm. The affected members had decreased vision, night blindness, typical peripheral retinal pigmentary changes, and electroretinographic abnormalities characteristic of retinitis pigmentosa. This pedigree suggests there is another variant of retinitis pigmentosa associated with hyperopia besides Lebers congenital amaurosis and preserved para-arteriole retinal pigment epithelium.

Congenital Anomalies of the Optic Disc

Anyone examining the ocular fundus will appreciate this text. It is easily and profitably read from beginning to end and serves as a valuable reference source. There are seven chapters that cover the following topics: anatomy, embryology, vascular anomalies, excavations and colobomas, size abnormalities, tumors, and other anomalies. The prose is clear, concise, and readable. The various optic disc anomalies are discussed from the standpoint of embryology, histopathology, clinical features, systemic association, differential diagnosis, ancillary studies, and causes. All this is done in a clinically pertinent way. The text is richly complemented by numerous illustrations that are excellent; many of them were culled from other publications. The abundance of current and pertinent references enhances the value of this text for all who are interested in the ophthalmoscopic picture of the optic nerve head.