Matenda a Apert

Matenda a Apert ndi matenda amtundu momwe matupi apakati pa chigaza amatsekera kuposa kale. Izi zimakhudza mawonekedwe amutu ndi nkhope. Ana omwe ali ndi matenda a Apert nthawi zambiri amakhalanso ndi zolakwika m'manja ndi m'mapazi.

Matenda a Apert amatha kupitilizidwa kudzera m'mabanja (obadwa nawo) ngati mkhalidwe waukulu wama autosomal. Izi zikutanthauza kuti kholo limodzi lokha liyenera kupatsira mwana wolakwika kuti akhale ndi vutoli.

Zina zitha kuchitika popanda mbiri yodziwika ya banja.

Matenda a Apert amayamba chifukwa chimodzi mwasintha ziwiri ku FGFR2 jini. Vutoli limapangitsa kuti mafupa ena amtundu wake atseke molawirira kwambiri. Matendawa amatchedwa craniosynostosis.

Zizindikiro zake ndi izi:

• Kutsekedwa koyambirira kwa ma suture pakati pa mafupa a chigaza, kotchulidwa ndikukhazikika pamiyala (craniosynostosis)
• Matenda am'makutu pafupipafupi
• Kusakanikirana kapena kuluka kwakukulu kwa zala zachiwiri, 3, ndi 4, zomwe nthawi zambiri zimatchedwa "mitten hands"
• Kutaya kwakumva
• Malo ofewa akulu kapena otsekera mochedwa pa chigaza cha mwana
• Kutheka, kuchepa kwa nzeru (zimasiyanasiyana malinga ndi munthu)
• Maso otchuka kapena otupa
• Kukula kwakukulu kwakatikati mwa midface
• Mafupa (nthambi) zovuta
• Kutalika kwakanthawi
• Kuluka kapena kusakaniza zala

Ma syndromes ena angapo amatha kubweretsa mawonekedwe ofanana kumaso ndi kumutu, koma osaphatikizira zovuta zamanja ndi phazi la Apert syndrome. Ma syndromes ofananawa akuphatikizapo:

• Matenda a Carpenter (kleeblattschadel, chilema cha chigaza cha cloverleaf)
• Matenda a Crouzon (craniofacial dysostosis)
• Matenda a Pfeiffer
• Matenda a Saethre-Chotzen

Wothandizira zaumoyo adzayesa. Ma x-ray amanja, phazi, ndi chigaza achitidwa. Mayeso akumva ayenera kuchitidwa nthawi zonse.

Kuyezetsa magazi kumatha kutsimikizira kuti matenda a Apert amapezeka.

Chithandizochi chimakhala ndi opaleshoni kuti ikonze kukula kwa mafupa a chigaza, komanso kuphatikiza zala ndi zala zakumiyendo. Ana omwe ali ndi vutoli ayenera kuyesedwa ndi gulu lapadera la opareshoni ya craniofacial kuchipatala cha ana.

Katswiri wa kumva ayenera kufunsidwa ngati pali zovuta zakumva.

Msonkhano wa Ana wa Craniofacial: ccakids.org

Itanani omwe akukuthandizani ngati muli ndi mbiri ya banja la Apert syndrome kapena muwona chigaza cha mwana wanu sichikukula bwino.

Upangiri wa chibadwa ungakhale wothandiza ngati muli ndi banja lomwe lili ndi vutoli ndipo mukukonzekera kutenga pakati. Wothandizira anu amatha kuyesa mwana wanu matendawa panthawi yapakati.

Acrocephalosyndactyly

• Mgwirizano

Goldstein JA, Wotayika JE. Opaleshoni ya pulasitiki ya ana. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Physical Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: chap 23.

Wachibale SL, Johnston MV. Kobadwa nako anomalies chapakati mantha dongosolo. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 609.

Mauck BM, Jobe MT. Kobadwa nako anomalies a dzanja. Mu: Azar FM, Beaty JH, Canale ST, eds. Opaleshoni ya Campbell. Wolemba 13. Philadelphia, PA: Elsevier; 2017: mutu 79.

Robin NH, Falk MJ, Haldeman-Englert CR. Ma crndosynostosis syndromes okhudzana ndi FGFR. Zowonjezera. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. (Adasankhidwa) Idasinthidwa pa June 7, 2011. Idapezeka pa Julayi 31, 2019.