Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
We describe two fetuses of the 21st week of gestation that share some macroscopic, radiologic, and histologic findings of thanatophoric dysplasia (TD), but also show distinct differences from the usual subtypes of TD. These differences mainly comprise the lack of facial abnormality, only mild reduction of chondrocyte proliferation and hypertrophy, and the lack of fibrous tissue interposition between cartilage and periosteal bone. Thus, these two cases may represent a distinct variant of thanatophoric dysplasia. The molecular analysis of the FGF-R-3 gene demonstrated in both cases mutations which were not significantly different from those of other cases of TD. Thus, the phenotypic modulation within the subtypes of TD may be influenced by additional and yet unknown factors.
Nerlich
A G
AG
Pathologisches Institut, Universität München, Germany.
Freisinger
P
P
Bonaventure
J
J
D000328:Adult; D001120:Arginine; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002356:Cartilage / Q000000981:diagnostic imaging / Q000473:pathology; D003545:Cysteine; D003937:Diagnosis, Differential; D005260:Female; D005333:Fetus; D014644:Genetic Variation; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014443:Tyrosine
D017468:Receptors, Fibroblast Growth Factor; D014443:Tyrosine; D001120:Arginine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D003545:Cysteine