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Krause-Kivlin syndrome

Definition

Krause-van Schooneveld-Kivlin syndrome (also known as Peters-plus sundrome) is a hereditary syndrome that primarily affects the eyes, growth and development of the individual. It is also called Krause-Kivlin syndrome or Peters-plus syndrome.

Diagnosis

MRI of the brain and spinal cord; echocardiogram; and ocular ultrasonogram may be performed based on the clinical findings from the physical examination.

Symptoms and Signs

Symptoms of Krause-Kivlin syndrome include: mental retardation; growth deficiency; low birth weight; round face; primonent forehead; widely-spaced eyes; long philtrum; cupid-bow shape of upper lip; thin vermilion border; small and malformed ears; small lower jaw; broad neck; preauricular pits; Peters anomaly; anterior eye chamber cleavage disorder; nystagmus; glaucoma; central cornea leukoma; central defect of Descemet's membrane; shallow anterior chamber; short limbs; decreased range of elbow motion; broad and short hands; broad and short feet; fifth finger clinodactyly; cardiac defects; atrial septal defects; ventricular septal defects; pulmonary stenosis; hydronephrosis; duplication of kidneys; undescended testes; infant feeding problems; delayed developmental milestones; and impaired vision.

Causes

The cause of Peters anomaly is not known; it may be the result of genetic factors, environmental factors, or both. The critical event must arise in the first trimester of pregnancy during the formation of the anterior chamber.

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