Patau Syndrome

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[edit] Trisomy 13 (Patau’s Syndrome)

Trisomy 13 occurs in 1 of 10,000 births. Not many children survive as the malformations are serious.

Signs and symptoms

Facial deformities are common with a central cleft palate and ocular hypotelorism (abnormal closeness of the eyes). The ears are low set and deformed. The skull is small and there are cerebral malformations, one particular severe one is called holoprosencephaly. These babies also have often multiple internal organ malformations and congenital heart disease.

Polydactyly (extra fingers) is also common.

Prognosis

Due to the multiple malformations 80% of babies with trisomy 13 do not live beyond 1 month. Only about 15% will live beyond 1 year. Feeding problems, respiratory infections and mental retardation are the major problems.

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Chromosomal Abnormalities

References:

1. Behrman: Nelson Textbook of Pediatrics, 17th ed., © 2004 Saunders, An Imprint of Elsevier: Chapter 70 – Chromosomal Clinical Abnormalities

2. http://ghr.nlm.nih.gov/condition=trisomy13