Thanatophoric dysplasia (TD) is the most common lethal bone dysplasia and is invariably caused by de novo mutations in the FGFR3 gene. The term platyspondylic skeletal dysplasia, San Diego variant (PLSD-SD) was used to define a rare form of lethal bone dysplasia similar to, but clinically and histologically distinct from TD1. the mechanism underpinning the divergent radiological presentation of the femora between “typical” TD1 and the PLSD-SD variant remains undetermined. On his theme, two unrelated TD1 fetuses at the same gestational week and FGFR3 mutation (Arg248Cys), but differing in femoral morphology are presented here.
Thanatophoric dysplasia (TD) is the most common lethal bone dysplasia and is invariably caused by de novo mutations in the FGFR3 gene. The term platyspondylic skeletal dysplasia, San Diego variant (PLSD-SD) was used to define a rare form of lethal bone dysplasia similar to, but clinically and histologically distinct from TD1. the mechanism underpinning the divergent radiological presentation of the femora between “typical” TD1 and the PLSD-SD variant remains undetermined. On his theme, two unrelated TD1 fetuses at the same gestational week and FGFR3 mutation (Arg248Cys), but differing in femoral morphology are presented here.
The "Old Theme" of Variability Versus Transitory Phenotypes in Thanatophoric Dysplasia Type 1: Two 19-Week-Old Fetuses With ("San Diego" Variant) and Without Ragged Metaphyses Due to the Same FGFR3 Mutation / Castori, Marco; Silvia, Morlino; Radio, FRANCESCA CLEMENTINA; Carmelilia De, Bernardo; Grammatico, Paola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 161:10(2013), pp. 2675-2677. [10.1002/ajmg.a.36131]
The "Old Theme" of Variability Versus Transitory Phenotypes in Thanatophoric Dysplasia Type 1: Two 19-Week-Old Fetuses With ("San Diego" Variant) and Without Ragged Metaphyses Due to the Same FGFR3 Mutation
CASTORI, MARCO;RADIO, FRANCESCA CLEMENTINA;GRAMMATICO, Paola
2013
Abstract
Thanatophoric dysplasia (TD) is the most common lethal bone dysplasia and is invariably caused by de novo mutations in the FGFR3 gene. The term platyspondylic skeletal dysplasia, San Diego variant (PLSD-SD) was used to define a rare form of lethal bone dysplasia similar to, but clinically and histologically distinct from TD1. the mechanism underpinning the divergent radiological presentation of the femora between “typical” TD1 and the PLSD-SD variant remains undetermined. On his theme, two unrelated TD1 fetuses at the same gestational week and FGFR3 mutation (Arg248Cys), but differing in femoral morphology are presented here.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
