Journal
CLINICAL DYSMORPHOLOGY
Volume 12, Issue 2, Pages 89-93Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200304000-00003
Keywords
Raine syndrome; lethal bone dysplasia; osteosclerosis
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We report of a baby from an Arab family with Raine syndrome. The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanelle, exophthalmos, severe depression of the nasal bridge with a hypoplastic midface, bilateral choanal atresia and a large protruding tongue. All the limbs were short and the thorax was small. Radiologically there was increased bone density in some bones, periosteal new bone formation and marked bowing of the femurs, tibiae, and ulnae. We suggest that osteosclerosis in Raine syndrome is not necessarily severe and generalized, and bowing of the long bones is another variable radiological feature of the syndrome.
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