β Scribed by Dinulos, Mary Beth; Sternen, Darci L.; Graham, C. Benjamin; Hudgins, Louanne
No coin nor oath required. For personal study only.
We report on a three-generation family with "expansile" bone lesions of the distal radius and ulna, cortical thickening of the proximal long bones, and pathologic fractures. The differential diagnosis of expansile bone lesions includes isolated bone cysts and tumors, such as enchondromas and fibrous dysplasia; familial expansile osteolysis; and the genochondromatoses. Our patients have findings most similar to the genochondromatoses; however, the distribution of the lesions and the accompanying manifestations may be evidence for a unique genetic condition in this family.
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Touted as one of Koreaβs most important works of fiction, Three Generations (published in 1931 as a serial in Chosun Ilbo) charts the tensions in the Jo family in 1930s Japanese occupied Seoul. Yomβs keenly observant eye reveals family tensions withprofound insight. Delving deeply into each characte
Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS
Most cases of the VACTERL "association" [Martinez-Frias et al., Am. J. Med. Genet. 76: 291-296, 1998] are sporadic, with an empiric recurrence risk of 1% or less. Rare families with recurrence of VACTERL-H association are described with patterns consistent with single gene inheritance. Also describe
Progressive diaphyseal dysplasia was found in a 3-generation family including 18 affected individuals. We describe the clinical and radiographic manifestations in 6 of 18 patients with this autosomal-dominant bone dysplasia and the good symptomatic response to corticosteroid treatment in one of thes