Etiket - genetic

Incontinentia Pigmenti

Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch-Sulzberger disease[1]:548, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus. The skin lesions evolve through characteristic stages: *blistering (from birth to about four months of age), *a wart-like rash (for several months), *swirling macular hyperpigmentation (from about six months of age into adulthood), followed by *linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing [...]

Daha fazla oku...

Tay-Sachs disease

Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and result ultimately in death usually by the age of four. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. [...]

Daha fazla oku...

LISSENCEPHALY

Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds (gyri) and grooves (sulci).[1] It is a form of cephalic disorder. Terms such as ‘agyria’ (no gyri) or ‘pachygyria’ (broad gyri) are used to describe the appearance of the surface of the brain. Children with lissencephaly are severely neurologically impaired and often die within several [...]

Daha fazla oku...