Isiyaluyalu Esizuzwe Nayo Ezingqayizivele Amacala Awaziwa Ngama-100
I-Seckel syndrome ifomu elizuzwe njengefa eliphansi, okusho ukuthi usana luqala kancane kakhulu futhi luhluleka ukukhula ngokujwayelekile ngemva kokuzalwa. Ngenkathi abantu abaneSeckel syndrome bezoba nesilinganiso esifanayo, bayoba nobukhulu bekhanda elincane. Ukuphuza ngokwengqondo kuvamile.
Naphezu kwezinselelo eziningi ezingokwenyama nezingokwenyama ezibhekene nomuntu onesiSeckel syndrome, abaningi baziwa ukuthi baphila kahle eminyakeni engaphezu kwengu-50.
Izimbangela zeSeckel Syndrome
I-Seckel syndrome iyingxabano ezuzwe njengezizwe ezixhunyaniswe nezinguquko zofuzo kwelinye lama-chromosomes amathathu ahlukene. Kubhekwa njengokungavamile kakhulu ngamacala angaphezu kuka-100 abikwe kusukela ngo-1960. Izingane eziningi ezixilongwa ngeSeckel syndrome zazalwa abazali abahlobene kakhulu (consanguineous), njengabazala bomzala noma abafowabo.
I-Seckel syndrome yisifo esiyinkimbinkimbi sezakhi zofuzo, okusho ukuthi kwenzeka kuphela uma ingane izuza ifuzo elifanayo elingavamile kumzali ngamunye. Uma ingane ithola isakhi esisodwa esivamile kanye negciwane elilodwa elingavamile, ingane izobe yithwala isifo kodwa ngeke ngokuvamile ibonise izimpawu.
Uma bobabili abazali banokushintshashintsha okufanayo kwe-chromosomal syndrome, ingozi yabo yokuba nengane neSeckel syndrome ingamaphesenti angu-25, kanti ingozi yokuba nomthwali wemali ngamaphesenti angu-50.
Izici zeSeckel Syndrome
I-Seckel syndrome ibonakala ngokuthuthukiswa okungavamile kokukhulelwa kwentombazane kanye nesisindo sokuzalwa esincane.
Ngemva kokubeletha, ingane izothola ukukhula okuncane nokukhula komzimba okwenza kube nesisindo esifushane kodwa esiyingqayizivele (ngokuphambene nesisindo esincane esifushane, noma i-achondroplasia). Abantu abaneSeckel syndrome banezici ezihlukile zomzimba nezentuthuko, kubandakanya:
- Isayizi encane kakhulu nesisindo ngesikhathi sokuzalwa (isilinganiso samakhilogremu angu-3.3)
- Okuncane kakhulu, isithunzi esilinganiselwe
- Usayizi obuncane wekhanda (microcephaly)
- Ukunyakaza okufana nomlomo wempumu
- Ubuso obufushane
- Izindlebe ezingalungile
- Umhlathi omncane ongajwayelekile (i-micrognathia)
- Ukuphuza kwengqondo, ngokuvamile kunzima nge-IQ engaphansi kwezingu-50
Ezinye izimpawu zingase zibe nezinhlobonhlobo ezinkulu, i-palate ephakeme, i-dot malformation, nezinye izinkinga zamathambo. Izinkinga zegazi ezifana ne-anemia (amancane amangqamuzana egazi abomvu), i- pancytopenia (hhayi amangqamuzana egazi okwanele), noma i-leukemia ephawulekayo yegazi (uhlobo lomdlavuza wegazi) nazo zivame ukubonakala.
Kwezinye izimo, ama-testes emadodeni ayohluleka ukuwela esihlokweni, kanti abesifazane bangase babe ne-clitoris engavamile. Ngaphezu kwalokho, abantu abane-Seckel syndrome bangase babe nezinwele zomzimba ngokweqile kanye nendawo eyodwa, ejulile ezintendeni zezandla zabo (eyaziwa njenge-simian crease).
Ukuxilongwa kweSeckel Syndrome
Ukuxilongwa kweSeckel syndrome kusekelwe kuphela ezimpawu zomzimba. I-X ray nezinye izinto zokucabanga (i- MRI , CT scan ) zingadingeka ukuze zihlukanise nezinye izimo ezifanayo. Okwamanje akakho lobhu noma ukuhlolwa kofuzo okuqondene nesifo seSeckel. Kwezinye izimo, ukuxilongwa okucacile akunakwenziwa kuze kube yilapho ingane ikhula futhi izimpawu zesici zivela.
Ukwelashwa Nokuphathwa kweSeckel Syndrome
Ukwelashwa kweSeckel syndrome kugxile kunoma yikuphi inkinga yezokwelapha engase ivele, ikakhulukazi ukuphazamiseka kwegazi kanye nokukhubazeka kwesakhiwo. Abantu abaphikisana nezinselele kanye nemindeni yabo kuzodingeka banikezwe usizo olusezingeni elihle lomphakathi kanye nezinsizakalo zokweluleka.
Imithombo:
> Al-Dosari, M .; Shaheen, R .; Colak, D. et al. "Ukuguqulwa kwe-CENP noveli kwenza i-Seckel syndrome." J Med Genet . 2010; 47: 411-4.
> Hennekam, R .; Allanson, J .; no-Krantz, I. (2011) "Ama-syndromes ambalwa amafushane." Ama-syndromes kaGorlin weNhloko neNeck . Oxford, England: Oxford University Press: 440-80.