Fetal and pediatric pathology
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Fetal Pediatr Pathol · Jan 2007
ReviewHereditary and familial syndromes of bone and blood. Genetic pathways, diagnostic pitfalls.
Numerous metabolic disorders, teratogenic agents, and in utero infections lead to congenital bone disease and malformation. This review focuses on hereditary and familial disorders of bone with particular emphasis on impaired hematopoiesis, myelofibrosis, pathologic fractures, and dysmorphology of the forearm and craniofacial structures. ⋯ Both can impart difficulty to the appropriate evaluation and delay the correct diagnosis. Many of these disorders are phenotypically quite similar but require very different therapeutic intervention.