Raine syndrome

✍ Scribed by Rejjal, Abdellatif

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 26 KB
• Volume: 78
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19980724)78:4<382::aid-ajmg17>3.0.co;2-e

✦ Synopsis

Raine et al. reported on a previously unknown disorder subsequently categorized as Raine syndrome by Kan and Kozlowski [1992], which comprised severe craniofacial anomalies with microcephaly, deformed hypoplastic nose, prominent exophthalmos, gum hypoplasia, low-set ears, and choanal atresia or stenosis. Radiographs showed diffuse osteosclerosis with periosteal thickenings of ribs, clavicles, and diaphyses of long bones. Until now, 4 single cases have been described with, in addition to those of Raine et al. and Kan and Kozlowski, reports by Kingston et al. [1991] and by Al Mane et al. [1996], who established the ultrasound and computed tomographic demonstration of intracranial calcification as a component of the syndrome. This last infant is the second of the three sibs discussed in the present report, the complete fam-