Syndrome Patau

Patau Syndrome( Trisomy chromosome 13 syndrome) is a serious hereditary incurable chromosomal disease in which the patient has an additional copy of chromosome 13( trisomy 13).The frequency of occurrence of the syndrome Patausouri of newborns is 1: 5000-7000( sex ratio 50: 50%).Children with this disorder are born full-term, in time, although resemble premature

Syndrome Patau symptoms, signs

Due extra 13 chromosome presence interfere with the normal development of the child, which is expressed in the presence of severe birth defects like:

- Inadequate development of facial and cerebral bonesSkull

- On the part of the digestive system, the pathology is represented by the incomplete turn of the intestine

- From the side of the musculoskeletal system, Noah anatomical structure of the feet and hands( common symmetric polydactyl both on the feet and on the hands)

- Cardio - vascular pathologic changes expressed in malformation of large vessels, defects partitions etc.

- In all cases, there are persistent violations of intellectual

- Central nervous system underdevelopment of the basic brain structures

- Genital defects are observed on the part of the genitourinary system, such as: undescended testicles in the scrotumy( cryptorchidism), hypoplasia of the external genitalia, distal offline rear wall of the urethra( hypospadias) bicornuate uterus, uterine doubling and vagina

- observe such anomalies kidney as cysts, doubling the ureters and pelvis, hydronephrosis

main manifestations of the syndrome Patau : trigonocephaly( skull narrowed in the frontal part and the occipital expanded), microcephaly, epikatn microphthalmia, narrow palpebral fissures, absence of focal iris, cataract, ocular possible lack yablAn eye;Deformed low-lying ears;Wide base of nose, sunken nose;Cleft palate and lips, micrognathia.

The diagnosis of Patau's syndrome is established based on the clinical picture and the combination of the developmental defects characteristic of the disease. In the case of suspected Patau syndrome, shown holding ultrasound all internal organs

Patau Syndrome treatment

Treatment Patau syndrome nonspecific including the operations upon congenital malformations binding prevention of infectious and colds holding restorative treatment. Most children born with the syndrome Patau, due to the presence of severe malformations die not having lived up to one year( 95% of cases), but the cases where the extension of life of up to five or even ten years has been to ensure the expeditious elimination of defects, adequate nutrition were recordedAnd careful care.