Congenital Knee Dislocation in a Patient with Larsen Syndrome and a Novel Filamin B Mutation
نویسندگان
چکیده
منابع مشابه
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملComplicated Congenital Dislocation of the Knee: A Case Report
Congenital dislocation of the knee (CDK) is a rare disorder. We report the case of a 7-year-old girl with bilateral knee stiffness, marked anterior bowing of both legs, and inability to walk without aid. Radiologic investigation revealed bilateral knee joint dislocation accompanied by severe anterior bowing of both tibia proximally and posterior bowing of both femur distally, demonstrating ...
متن کاملThe management of knee dislocation in a child with Larsen syndrome
In the present report, we describe a 3-year-old girl who presented with the full clinical and radiographic features of Larsen syndrome. The knee deformity in our patient was compatible with a complete (grade 3) anterior dislocation of the tibia on the femur. The reduction of knee dislocations in Larsen syndrome patients should be completed before treatment of the hips because 45 ̊ of knee flexio...
متن کاملA Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
متن کاملPlatelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation
Defects in filamin A (FLNA) gene could lead to low platelet counts and decreased surface expression of glycoprotein (GP) Ibα. Here, we report and investigate the FLNA genomic alteration of a case with Bernard-Soulier syndrome (BSS), a rare hereditary bleeding disorder caused by quantitative or qualitative abnormalities in the GP Ib-IX-V receptor. DNA sequencing analysis reveals the presence of ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Orthopaedics & Related Research
سال: 2008
ISSN: 0009-921X
DOI: 10.1007/s11999-008-0196-5