Journal
CLINICAL DYSMORPHOLOGY
Volume 12, Issue 3, Pages 153-160Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/01.mcd.0000080413.95344.60
Keywords
Raine syndrome; osteosclerosis; bone dysplasia; desmosterolosis; fetal pathology
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We describe three affected sibs with Raine syndrome born to a consanguineous Turkish couple. Clinical findings and post-mortem assessment are presented. We have added previously unreported meso and severe telebrachyphalangy and urogenital anomalies to the clinical spectrum. Appositional new bone formation may be mistaken for fractures and callus formation-both prenatally by ultrasound and postnatally in radiographs. Further research is required to detect the underlying metabolic and molecular defects of this autosomal recessive syndrome.
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