Klippel - Feil syndrome: photo, ọrịa, ihe na-esi ike ịbụ? Sprengel syndrome - ida - Klippel: omume na-egwu mmiri

Abụọ French ọkà mmụta ọrịa akwara Andre Feil na Moris Klippel na 1912, kọwara n'ụzọ zuru ezu congenital deformities na cervical-thoracic spain na ụmụ. All na a mụrụ ha na nne na nna nke otu ọbara. Na Middle Ages, iwu na di na nwunye nwere ike ịghọ ọbụna ndị ikwu. Ya mere, njupụta nke a anomaly abụghị ihe ijuanya. Mgbe e mesịrị daa ọrịa aha mgbe ndị ọkà mmụta sayensị. Klippel - Feil syndrome bụghị a ọrịa n'ụzọ zuru ezu. Ọ bụ a congenital ọrịa, nke na-akpatakarị ọzọ spinal pathologies.

Atụmatụ nke ọrịa

N'okpuru syndrome Klippel - Feil na-ezo aka congenital ọrịa nke cervical spain, esịnede na synostosis na mbenata ọnụ ọgụgụ nke vertebrae. Ọ e ji a elu ugboro nke ediyarade - otu ikpe kwa 120 000 ịmụ nwa. Ndị kasị ahụkarị feature nke ọrịa na-atụle ga a nnọọ Mbelata ke ogologo nke n'olu. N'ọnọdụ ka ukwuu, Bilie ọzọ abnormalities nke nweekwa usoro na congenital abnormalities nke esịtidem akụkụ. Na nchoputa nke ọrịa na-gara ọtụtụ ọkachamara :. Neurology, orthopedics, mkpụrụ ndụ ihe nketa, wdg Conservative ọgwụgwọ na-agụnye ọgwụgwọ anụ ahụ, physiotherapy na ịhịa aka n'ahụ. Na karịsịa siri ike ikpe-achọ ịwa ahụ - ịwa tservikalizatsii.

The isi na-akpatara ndị malformations

Klippel - Feil syndrome na-ezo aka a genetically kpebisiri ike ọrịa. Enwe mgbanwe ndị ọrịa na ahụ amalite ime na akpa izu mgbe a tụụrụ ime ya. Otu n'ime ihe ndị bụ isi kpatara dọkịta syndrome kwuru a otito aghara nke spain na segmentation, karịsịa verhnesheykovom larịị. Kpụrụ synostosis thoracic na cervical vertebrae, mbenata ha nọmba, nonunion ozu na arches ekwe ka anyị chọpụta adakarị picture nke ọrịa. Ihe ize ndụ na-agụnye ụmụaka na ọjọọ si n'aka ruo n'aka, ebe:

1. Mkpụrụ ndụ ihe nketa nwere ntụpọ na chromosomes. Na a na-arịa ọrịa na nwa a mebiri nke guzobe nke iche nke ibu mkpa maka ntozu nke ọkpụkpụ. Nke a na-apụghị izere ezere na-egosi na mmepe nke thoracic na cervical vertebrae ngalaba.
2. Autosomal achị ụkpụrụ nke nketa. Ọ bụrụ na otu nne na nna nwere ọrịa, ihe gbasara nke puru inwe a nwa na abnormalities bụ 50-100%.
3. Autosomal recessive nketa. Na nke a, ihe gbasara nke puru nke nwa nwere abnormalities nke 0-50%.

Iji zere ọjọọ ketara nne na nna kwesịrị ịkpọ a Mkpụrụ Ndụ Ihe Nketa na ogbo nke atụmatụ nke nwa.

Ahụkarị mgbaàmà nke syndrome

Nke a na ọrịa e ji classic chi atọ n'ime mgbaàmà: oké obere olu, a mgbanwe hairline, mmachi agagharị nke isi. The ọrịa a na-emekarị jikọtara ndị ọzọ pathologies. Na 30% nke ọrịa kpughere scoliosis, torticollis isiike ụdị, elu-eguzo pupụtara - Sprengel ọrịa. N'ọnọdụ ụfọdụ, ndị hụrụ abnormalities nke elu aka na ụkwụ, ụkwụ deformation, ezé, ọdịdị ihu asymmetry, hyperopia. Na 25% nke ọrịa chọpụtara na congenital ntị ochichi.

Klippel syndrome - ida - Sprengel - na-abụghị nanị owụt ịchọ mma mma. Ọ pụkwara ịgụnye akwara ozi mgbaàmà. Mgbanwe ndị na-CNS gosi eme iberibe, hydrocephalus, Akwụkwụ na-adọ. Site na nwata ọrịa nwere muscle adịghị ike na nsọtụ, nakwa dị ka synkinesis. Na okenye afọ, n'ozuzu adakarị picture na-gbakwunyere site abụọ mgbanwe nke ọkpụkpụ azụ.

Medical ule

Nkwenye nke ọrịa nwere ike dabere na kwuru, chi atọ n'ime mgbaàmà, anụ ahụ ule data na instrumental ule. A ọrụ pụrụ iche na nchoputa nyere ndị na-amụ akụkọ ezinụlọ nke onye ọrịa. Nịm Klippel - Feil syndrome na a nkọwa zuru ezu nke soro anomalies ikekwe ka a n'ihi nke achikota oru nke ọkachamara. Dị ka a na-achị, ọ neurologists, geneticists, orthopedists, cardiologists na pulmonologists.

Na-amata ọdịdị nke mgbanwe kenyere vertebral radiography. E duziri ọmụmụ abụọ ntule, nke kasị ọmụma a bụ mpụta. N'ihi na nke uncharacteristic ọnọdụ nke onyinyo nke okpokoro isi nke isi kwekọọ onyinyo nke spinal kọlụm, na-eme ya ike ịmata ihe. Ọzọkwa, ọ na-atụ aro ka na-ese foto na kacha flexion / ndọtị nke n'olu. Nke a na-enye ohere ikpebi na o kwere omume akwusighi ununited vertebrae na nyochaa syndrome Klippel - Feil. X-ụzarị nke cervical-thoracic spain enyere mata:

• nkwarụ vertebrae;
• ibelata na ha na-ole;
• anọ na nke vertebral ozu;
• ndiiche eguzo pupụtara;
• curvature nke spain.

Mgbe ikwado nchoputa nke ọrịa ọzọ họpụtara ultrasound nke esịtidem akụkụ ịchọpụta anomalies na ha mebere atumatu. Na ọnụnọ nke akwara ozi abnormalities nwere ike ịchọ arịa Doppler ultrasound, angiography, Lee na MRI nke cervical spain. Ọ bụ iwu na gakwuru a dibịa-Mkpụrụ Ndụ Ihe Nketa. Dị ka ya pụta ọkachamara ga-enwe ike ịmata ndị mode nke nketa, na-amata na ihe ize ndụ ga-eme n'ọdịnihu ọgbọ.

Ihe bụ isi ụdị ọrịa

Klippel syndrome - Feil bụ a nnọọ obere ọrịa. Dị ka ọnụ ọgụgụ, na-ahụkarị ihe mgbaàmà na-chọpụtara na otu nwa nke 120 puku. The anomaly na-egosi na a ọrịa na otu nke atọ iche:

• Mbenata ọnụ ọgụgụ nke agba na cervical spain, nke nta nke nta na a gwakọta na anya ebelata n'olu. Nke a na ụdị daa ọrịa na-akpata ihe isi ike mgbe na-akpụ akpụ isi.
• Synostosis cervical spain anọ na na ndabere na occipital ọkpụkpụ. Onye ọrịa nwere ike ghara isi ya na-enweghị ihe mgbu. Cervical vertebrae na olu bụ otu.
• The atọ ụdị ọrịa ediyarade gụnyere mbụ na nke abụọ.

A akpan akpan variant nke syndrome nwere ike kpebisie naanị dọkịta na ndabere nke nnyocha e mere na-arụpụta.

Basic ụkpụrụ nke ọgwụgwọ

Dị mwute ikwu na, nkà mmụta ọgwụ ọgbara ike na-enye ezigbo ụzọ nke otú kpamkpam kpochapụ syndrome nke Klippel - Feil. Ọgwụgwọ-agụnye na-egbochi mmepe nke abụọ deformities. Iwere dị ka a ndabere mgbanwe ụzọ, nke na-agụnye ọgwụgwọ anụ ahụ na ịhịa aka n'ahụ. Drug ọgwụgwọ na ihe omume na ọrịa usoro na-esonyere ihe mgbu na ahụ erughị ala mkpakọ nke akwara mgbọrọgwụ. Dị ka a na-achị, na-eji analgesics, mgbochi mkpali na-abụghị steroidal ọgwụ ọjọọ. Ruo ogologo oge mkpakọ nke akwara mgbọrọgwụ achọ ịwa ahụ. Isi nzube nke na-arụ ọrụ - iji kpochapụ ihe mgbu ikpe ziri ezi mpụga ntụpọ.

Ọgwụgwọ anụ ahụ na omume na ọdọ mmiri

Conservative ọgwụgwọ nke syndrome-agụnye ọgwụgwọ anụ ahụ N'ezie, ọgwụgwọ ịhịa aka n'ahụ nke cervical spain na-akpọ olu uzo. Omume na-ahọrọ n'otu n'otu, nke dabeere na-adakarị foto nke onye ọrịa. The oge mbụ, ha ga-rụrụ n'okpuru nlekọta nke a ọkachamara, i nwere ike mgbe ahụ, ịga na na na anụ ụlọ nchụso. Ọrịa na a nchoputa nke "Sprengel syndrome - ida - Klippel" ọdọ mmiri omume aka iji zere a mgbagwoju anya N'ezie nke ọrịa. Dị ka a na-achị, na-eto eto ndị ọrịa, ndị dọkịta nwere ike ikwu na backstroke. More mgbagwoju omume nwekwara họrọ n'otu n'otu. Universal aro banyere igwu egwuregwu mmega adịghị adị.

ịwa ahụ ọgwụgwọ

Persistent mgbu mere site akwara mgbọrọgwụ mkpakọ bụ onye bụ isi na-egosi maka ịwa ahụ. Ọrịa na a nchoputa nke "syndrome Klippel - Feil" prognosis njọ na afọ. Ya mere, na-arụ ọrụ e kenyere ozugbo nkwenye nke daa ọrịa. Dịkwuo agagharị nke n'olu na-eji maka tservikalizatsiya Bonola. N'oge usoro, dọkịta na-ewepu n'elu anọ ọgịrịga na periosteum iji belata nsogbu na esịtidem akụkụ. The ọrụ a rụrụ na ọtụtụ nkebi. Ná mmalite wepụrụ ọgịrịga na otu akụkụ, mgbe mgbake nke ahu - ọzọ.

Ghara ịgbanwe oge na-achọ a otutu oge na mgbalị. N'ihi na ọtụtụ ọnwa, na-enwe ndidi ga-ezu ike. Otú ọ dị, nye elu na ime adịghị mkpa. Ugbu a ọ bụ nanị ụzọ dị irè isi na-agbanwe mpụga ntụpọ, omume nke nke-akpali syndrome Klippel - Feil. Gịnị ga-eme maka ahụ ike, ma ọ bụrụ na anyị ahapụ ọgwụgwọ, kọwara n'okpuru ebe a.

Nsogbu na prognosis n'ihi ọrịa

Mgbe ịwa ahụ na-agwọ oge na ndidi pụrụ iduga a full ndụ. The olu a obere bit n'oge a na-abawanye na ogologo, nke, site na aesthetic echiche, a na-ewere mma akụkụ. Ọ bụrụ na onye ọrịa na eleghara ihe dọkịta gwara mgbake, ahụ na-amalite "ikwu" nsogbu. N'ụzọ bụ isi mepụtara daa ọrịa nke esịtidem akụkụ, e nwere ike mgbu na olu. Gara aga n'ihi na mgbe nile na ịda iwu nke akwara mgbọrọgwụ na pụrụ iduga mezue obezdvizhevaniyu aka na ụkwụ. Visceral ize ndụ nke irreversible enweghị nchịkwa Filiks, na ike a na-akpata n'oge ọnwụ.

mgbochi

Ọ ga-ekwe omume iji gbochie syndrome nke Klippel - Feil? Photo nke ọrịa na a nchoputa amanye na-eche banyere ajụjụ a. Specific mgbochi nke ọrịa a na-adịghị adị, ebe ọ bụ butere n'aka. Na ezinụlọ ebe ikpe nwere yiri anomalies e dere, ọ dị mkpa maka mkpụrụ ndụ ihe nketa ndụmọdụ. Ya kachasi mkpa Juda ala na-elegharị di na nwunye na-akwadebe maka ọrụ nke ndị nne na nna, na-amata ihe ize ndụ nke ọrịa.

Iji ichikota

Klippel - Feil syndrome bụ a congenital anomaly nke elu spain. Ọ e ji a chi atọ n'ime mpụga ịrịba ama na a ọnụ ọgụgụ nke radiological atụmatụ. The ọrịa nwere a mma dị mkpa prognosis, ma na-agwọ ya kpam kpam-agaghị ekwe omume. Bịara n'Ezi Oge awa ahụ aka gbazie naanị-enye ohere mpụga flaws dị. Ọ bụrụ na ị nwere na mbụ, e enen ke a ikwu nke ndị dị otú a nchoputa, ọ bụ ihe amamihe na-ata a full mkpụrụ ndụ ihe nketa echetakwa n'ihu tụụrụ ime a nwa. Nọrọ mma!