Cri du chat lefu

Cri du chat syndrome ke sehlopha sa matšoao a bakoang ke ho se fumane sekhechana sa nomoro ea chromosome ea 5. Lebitso la lefu lena le ipapisitse le mohoo oa lesea, le phahameng le utloahala joalo ka katse.

Cri du chat syndrome ha e fumanehe hangata. E bakoa ke karolo e haellang ea chromosome 5.

Maemong a mangata ho lumeloa hore a etsahala nakong ea kholo ea lehe kapa peō ea botona. Ho na le linyeoe tse fokolang ha motsoali a fetisetsa mofuta o fapaneng, o hlophisitsoeng bocha oa chromosome ho ngoana oa bona.

Matšoao a kenyelletsa:

• Lla le holimo haholo 'me le ka utloahala joalo ka kat
• Ho thellela tlase mahlong
• Epicanthal folds, lesapo le eketsehileng la letlalo ka lehlakoreng le kahare la leihlo
• Boima ba pelehi le kholo e liehang
• Ditsebe tse tlase kapa tse bopehileng ka tsela e sa tloaelehang
• Ho lahleheloa ke kutlo
• Liphoso tsa pelo
• Bokooa ba kelello
• Ho loha kapa ho kopanya menoana kapa menoana ka lehare
• Sekhahla sa mokokotlo (scoliosis)
• Mohala o le mong letsohong la letsoho
• Li-tag tsa letlalo kapela tsebe
• Nts'etsopele e liehang kapa e sa phethoang ea tsebo ea makoloi
• Hlooho e nyane (microcephaly)
• Mohlahare o monyane (micrognathia)
• Mahlo a bulehileng ka bophara

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele. Sena se ka bontša:

• Hernia ea Inguinal
• Diastasis recti (karohano ea mesifa ka mpeng)
• Molumo o tlase oa mesifa
• Litšobotsi tsa sefahleho

Liteko tsa lefutso li ka bontša karolo e sieo ea chromosome 5. X-ray ea lehata e ka senola mathata afe kapa afe ka sebopeho sa lehata.

Ha ho na kalafo e khethehileng. Mofani oa hau o tla fana ka maikutlo a mekhoa ea ho phekola kapa ho laola matšoao.

Batsoali ba ngoana ea nang le lefu lena ba lokela ho ba le tlhabollo le liteko tsa lefutso ho bona hore na motsoali a le mong o na le phetoho ea chromosome 5.

5P- Mokhatlo - fivepminus.org

Bokooa ba kelello bo atile. Halofo e le 'ngoe ea bana ba nang le lefu lena ba ithuta tsebo e lekaneng ea ho bua. Sello se kang katse ha se hlokomelehe ha nako e ntse e tsamaea.

Mathata a latela boholo ba bokooa ba kelello le mathata a mmele. Matšoao a ka ama bokhoni ba motho ba ho itlhokomela.

Lefu lena hangata le fumanoa ha le hlaha. Mofani oa hau o tla buisana le uena ka matšoao a ngoana oa hau. Ho bohlokoa ho tsoelapele ho etela khafetsa bafani ba ngoana kamora ho tsoa sepetlele.

Ho khothaletsoa tlhabollo le tlhahlobo ea lefutso ho batho bohle ba nang le nalane ea malapa ea lefu lena.

Ha ho na thibelo e tsebahalang. Banyalani ba nang le nalane ea lelapa ea lefu lena ba lakatsang ho ima ba ka nahana ka tlhabollo ea lefutso.

Chromosome 5p hlakola lefu; 5p ho tlosa lefu; Cat lefu la lefu

Bacino CA, Lee B. Cytogenetics. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 98.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.