Hereditary 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. The severity of bone disease and marrow dysfunction of any given disorder may vary considerably from one affected individual to the next, and intrapersonal variability over time may be substantial as well. 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.
Rossbach
Hans-Christoph
HC
Division of Pediatric Hematology/Oncology, St. Joseph Children's Hospital, and University of South Florida, Tampa, Florida 33607, USA. hanschristoph.rossbach@baycare.org
D001847:Bone Diseases / Q000175:diagnosis* / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005542:Forearm / Q000002:abnormalities; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics*; D006410:Hematopoiesis / Q000235:genetics; D006801:Humans; D055728:Primary Myelofibrosis / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome