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Classifying cardiac lesions in infants is quite difficult, and accurate diagnosis is essential. The diagnosis of Shone’s syndrome requires an ultrasound of the heart (echocardiogram) and a cardiac catheterization procedure, that is, insertion of a device through blood vessels in the groin to the heart that helps identify heart anatomy. [3]
Fetal alcohol syndrome; First arch syndrome; Focal femoral hypoplasia; Gastrointestinal atresia; Gastroschisis; Holoprosencephaly; Hydranencephaly; Hydronephrosis; Hydrops fetalis; Hypoplastic left heart syndrome; Infantile polycystic kidney disease; Iniencephaly; Intracranial teratoma; Intrauterine growth retardation; Klippel–Trénaunay ...
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...
The most common vaginal anomaly is an imperforate hymen. This anomaly occurs often enough that it can be detected by some pediatricians shortly after birth. It can be corrected through a minor surgery and may be delayed until puberty. [46] The hymen can be unusually thick or partially obstructed by the presence of fibrous bands of tissue. An ...
[1] [15] Also referenced as Nicolaus Steno in Latin, Stensen was a pioneer in anatomy and geology, his work making significant specific contribution to the fields of cardiac anatomy and pathology. [9] A further description was published in 1888 by the French physician Étienne-Louis Arthur Fallot, after whom it was ultimately named.
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome , because there is no known pathogenetic cause to explain the grouped incidence.
MRKH syndrome account for 5% to 10% of all Müllerian anomalies. While septate uterus or class II uterine anomalies account for 3% to 7% of all Müllerian anomalies. The prevalence of Müllerian anomalies also differs within the female population, occurring in 5.5% of the general population, 8% in sterile females and 13.3% in females with a ...
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .