Hereditary and Familial Syndromes of Bone and Blood. Genetic Pathways, Diagnostic Pitfalls

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 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.

Limb Anomalies and Anemia: Aase-Smith Syndrome

“…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.…”

“…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.…”