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Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation

✍ Scribed by Shalev, Stavit A.; Shalev, Eliezer; Reich, Dan; Borochowitz, Zvi U.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 27 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990917)86:3<274::aid-ajmg15>3.0.co;2-r

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✦ Synopsis

We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.

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