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Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation
S A Shalev1, E Shalev, D Reich
1The Genetics Institute, Haemek Medical Center, Afula, Israel.
Abstract:
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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