Abstract: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 ti… Show more
“…Genetic Pathways, Diagnostic Pitfalls" [1]. In the section "Hereditary Syndromes with Malformation of the Forearm and Impaired Hematopoiesis" the author noted hypo-or aplasia of the thumbs and radii as common limb anomalies of Fanconi anemia.…”
mentioning
confidence: 99%
“…In the section "Hereditary Syndromes with Malformation of the Forearm and Impaired Hematopoiesis" the author noted hypo-or aplasia of the thumbs and radii as common limb anomalies of Fanconi anemia. Marrow failure might appear at late school age or in older adults [1]. The phenotypes of such syndromes of bone marrow dysfunction and upper limb anomalies and thumb malformations might overlap.…”
“…Genetic Pathways, Diagnostic Pitfalls" [1]. In the section "Hereditary Syndromes with Malformation of the Forearm and Impaired Hematopoiesis" the author noted hypo-or aplasia of the thumbs and radii as common limb anomalies of Fanconi anemia.…”
mentioning
confidence: 99%
“…In the section "Hereditary Syndromes with Malformation of the Forearm and Impaired Hematopoiesis" the author noted hypo-or aplasia of the thumbs and radii as common limb anomalies of Fanconi anemia. Marrow failure might appear at late school age or in older adults [1]. The phenotypes of such syndromes of bone marrow dysfunction and upper limb anomalies and thumb malformations might overlap.…”
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