Search results
Results from the WOW.Com Content Network
Shone's syndrome is a rare congenital heart defect described by Shone in 1963. In the complete form, four left-sided defects are present: [ 1 ] Supravalvular mitral membrane (SVMM)
Symptoms frequently present early in life, but it is possible for some CHDs to go undetected throughout life. [15] Some children have no signs while others may exhibit shortness of breath, cyanosis , fainting , [ 16 ] heart murmur , under-development of limbs and muscles, poor feeding or growth, or respiratory infections.
Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, [1] is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen and paired organs such as the lungs and kidneys.
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) [1] that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. [ 2 ]
For premium support please call: 800-290-4726 more ways to reach us
[5]: 62 Babies with Down syndrome and other chromosomal defects that cause congenital heart defects may also be at risk of teratology of Fallot. [11] Teratology of fallot is typically treated by open heart surgery in the first year of life. [8] The timing of surgery depends on the baby's symptoms and size. [8]
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. [4] CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase.
Life expectancy for those with Down syndrome has increased markedly since 1960 when it was very low. Depending on the severity of accompanying health problems, an individual with Down syndrome can ...