Down's Syndrome - Prenatal Screening and Diagnosis
Because of the morbidity associated with Down syndrome, screening and diagnostic testing for this condition are offered as optional components of prenatal care. Prenatal diagnosis of trisomy 21 allows...
View ArticleApproach to Case of Down's Syndrome
Down's syndrome need a thorough physical examination. The newborn examination should include neurologic and neurobehavioral assessments. Routine screening tests should be carried out in the newborn...
View ArticleClinical Features of Down's Syndrome
Many fetuses with Down syndrome are now prenatally diagnosed by karyotyping done because of advanced maternal age or abnormal triple screen test or fetal ultrasonographic findings.
View ArticlePhenylketonuria
Phenylketonuria is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase that is responsible for processing the essential amino acid phenylalanine and leads to elevated...
View ArticleTurner's Syndrome
Turner's syndrome is a genetic disorder characterized by predominantly short stature in girls.
View ArticlePorphyrias
Porphyrias are a heterogeneous group of either inherited or acquired disorders of heme biosynthesis which cause either skin problems or a condition known as acute attack.
View ArticleTuberous Sclerosis
Tuberous sclerosis is a complex genetic disorder (a disease that occurs due to some defect in the genes) that is characterized by skin lesions, nervous system affectation and renal involvement primarily.
View ArticleAchondroplasia
Achondroplasia is derived from Greek and it means "without cartilage formation". Though patients with achondroplasia have cartilage, only a small amount of cartilage in the growth plates of the long...
View ArticleFragile X Syndrome
Fragile X syndrome is a common cause of mental retardation. The incidence has been estimated at approximately 1 in 1,500 males and 1 in 2,500 females.
View ArticleGenetic Disorders
A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental...
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