نتایج جستجو برای: congenital disorder

تعداد نتایج: 698577  

  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 ...

Journal: :Egyptian Journal of Medical Human Genetics 2022

Abstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected show stiffness and pain sometimes. The two major types of congenita are known as Thomsen disease Becker disease. These conditions distinguished by the severity their symptoms patterns inheritance. causative factor mutations in CLCN1 gene. Myotonia rarely reported black especial...

Journal: :International Journal of Contemporary Pediatrics 2022

Double aortic arch is a rare congenital disorder. Symptoms arises due to compression of trachea or esophagus. Its presentation varies from asymptomatic cases life threatening respiratory distress. Clinical diagnosis often difficult presence wide verities symptoms. We described three-month-old child presented with wheezing and severe distress found have double arch.

Journal: :Indian pediatrics 1994
R Khadagawat R Teckchandani P Garg A Arya B Choudhary

The importance of identifying this anomaly is that it is associated with other congenital malformations in over 20% of cases, most commonly being associated with cardiovascular anomalies and congenital dislocation of hip. Of the 44 infants with this syndrome, Pape and Pickering found 27 to have major anomaly of skeletal, genitourinary, respiratory and cardiovascular systems. The disorder most c...

2018
Uwe Wollina Katlein França Torello Lotti Georgi Tchernev

BACKGROUND Cutis marmorata telangiectatic congenital or Van Lohuizen syndrome is a rare vascular disorder that may be associated with other congenital malformations. Around 300 cases have been reported so far. CASE REPORT We present a 4-year-old girl with Van Lohuizen syndrome of the leg, but without any other malformations. CONCLUSION Neonatal lupus erythematosus may resemble congenital va...

Journal: :journal of periodontology and implant dentistry 0
mohammad taghi chitsazi adileh shirmohammadi nasrin rahmanpour monir moradzadeh khiyavi

the sturge-weber syndrome or encephalotrigeminal angiomatosis is a rare neurological and congenital disorder with a frequency of 1 in 50,000 births. this syndrome is a nonhereditary developmental condition and is characterized by the presence of congenital capillary malformation and a hamartomatous vascular proliferation involving the face (port-wine stain or facial birthmark), sometimes skull ...

Journal: :The American Journal of Human Genetics 2012

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