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BMJ Case Rep ; 12(6)2019 Jun 06.
Article in English | MEDLINE | ID: mdl-31175114

ABSTRACT

Tarsal-carpal coalition syndrome is a progressive condition involving synostosis of the wrist, ankle and digits. We describe a mother and her newborn that have this rare inherited condition where the diagnosis was made only after the baby's birth. The baby's condition was suspected on antenatal scanning, and he was born with reduced range of motion of his digits, elbows and ankles. The mother's condition has progressed to involve a fixed flexion deformity of her bilateral elbows, synostoses of her second to fifth digits and extensive coalition of her tarsal and carpal bones. She has required regular osteotomies to improve limb functioning and quality of life.


Subject(s)
Carpal Bones/abnormalities , Carrier Proteins/genetics , Foot Deformities, Congenital/diagnostic imaging , Foot Deformities, Congenital/surgery , Hand Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/surgery , Stapes/abnormalities , Synostosis/diagnostic imaging , Synostosis/surgery , Tarsal Bones/abnormalities , Carpal Bones/diagnostic imaging , Carpal Bones/surgery , Early Diagnosis , Female , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Humans , Infant, Newborn , Male , Maternal Age , Osteotomy , Polymorphism, Single Nucleotide , Stapes/diagnostic imaging , Synostosis/genetics , Tarsal Bones/diagnostic imaging , Tarsal Bones/surgery , Young Adult
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