Pediatr. praxi. 2021;22(6):411-413 | DOI: 10.36290/ped.2021.089

Preterm newborn with lethal congenital contracture syndrome

MUDr. Tereza ©ottová, MUDr. Martin Matas
Neonatologické oddělení, Fakultní nemocnice Plzeň

Lethal congenital contracture syndrome is a rare autosomal recesive genetic disease. 11 subtypes are known. Prognosis is severe, affected babies die within one year.

Keywords: lethal congenital contracture syndrome, distal joint contractures, hypotonia, respiratory failure.

Published: November 24, 2021  Show citation

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©ottová T, Matas M. Preterm newborn with lethal congenital contracture syndrome. Pediatr. praxi. 2021;22(6):411-413. doi: 10.36290/ped.2021.089.
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References

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  2. Laquerriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum. Molec. Genet. 2014; 23: 2279-2289. Go to original source... Go to PubMed...
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