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.
Keywords:
calcium and bone; congenital disorders; genetics.
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MeSH terms
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Carpal Bones / abnormalities*
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Carpal Bones / diagnostic imaging
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Carpal Bones / surgery
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Carrier Proteins / genetics*
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Early Diagnosis
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Female
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Foot Deformities, Congenital / diagnostic imaging*
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Foot Deformities, Congenital / genetics
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Foot Deformities, Congenital / surgery*
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Hand Deformities, Congenital / diagnostic imaging*
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Hand Deformities, Congenital / genetics
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Hand Deformities, Congenital / surgery*
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Humans
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Infant, Newborn
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Male
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Maternal Age
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Osteotomy
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Polymorphism, Single Nucleotide
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Stapes / abnormalities*
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Stapes / diagnostic imaging
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Synostosis / diagnostic imaging*
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Synostosis / genetics
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Synostosis / surgery*
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Tarsal Bones / abnormalities*
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Tarsal Bones / diagnostic imaging
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Tarsal Bones / surgery
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Young Adult
Substances
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Carrier Proteins
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noggin protein
Supplementary concepts
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NOG-Related-Symphalangism Spectrum Disorder