Distal Arthrogryposis in Newborn: Clinical Case
Background. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospitalized in the department of newborns and premature b...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2020-09-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2451 |
| _version_ | 1797695013102026752 |
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| author | Vasily P. Gavrilyuk Yana V. Evseeva Oleg V. Cherevko Dmitry A. Severinov |
| author_facet | Vasily P. Gavrilyuk Yana V. Evseeva Oleg V. Cherevko Dmitry A. Severinov |
| author_sort | Vasily P. Gavrilyuk |
| collection | DOAJ |
| description | Background. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospitalized in the department of newborns and premature babies’ pathology on 6th day of life in critical condition. Spontaneous motor activity was severely decreased. He responds to the examination with little increase in motor activity and weak painful scream. Muscle tone is dystonic: it is diffusely reduced in the proximal parts of the upper and lower limbs, in the distal parts of the upper limbs it is significantly increased, there are flexion contractures of the fingers on both hands (mostly on the left one). Passive fingers contractures reversal is difficult. There were no feet deformities or craniofacial anomalies. Hereditary history is burdened: child’s father (1984 year of birth), great-grandfather and cousin uncle (on the paternal line) have finger deformities on both hands. Father and relatives have not been diagnosed before. The clinical diagnosis was established after consultation of geneticist and orthopedist: «Distal arthrogryposis, type 2A, autosomal dominant type of inheritance with incomplete penetrance». The molecular genetic testing was not performed due to the refusal of the child's parents. Therapeutic gymnastics, stage plaster correction of finger contractures were performed in the department during the child hospitalization (21 days). Positive dynamics was noted: finger extension amplitude has increased.Conclusion. Early conservative treatment of infants with arthrogryposis allows to correct musculoskeletal deformities. Early initiation of treatment is expected to increase the amplitude of both passive and active movements in the hand joints, whereas, it will improve the function of hand grasping and self-care capacities of patients. |
| first_indexed | 2024-03-12T03:06:08Z |
| format | Article |
| id | doaj.art-791769fa0b2642388b4419256c67caa9 |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2024-03-12T03:06:08Z |
| publishDate | 2020-09-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-791769fa0b2642388b4419256c67caa92023-09-03T14:32:55Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352020-09-0119429830310.15690/vsp.v19i4.21381893Distal Arthrogryposis in Newborn: Clinical CaseVasily P. Gavrilyuk0Yana V. Evseeva1Oleg V. Cherevko2Dmitry A. Severinov3Курский государственный медицинский университетКурская областная детская больница № 2Курская областная детская больница № 2Курский государственный медицинский университетBackground. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospitalized in the department of newborns and premature babies’ pathology on 6th day of life in critical condition. Spontaneous motor activity was severely decreased. He responds to the examination with little increase in motor activity and weak painful scream. Muscle tone is dystonic: it is diffusely reduced in the proximal parts of the upper and lower limbs, in the distal parts of the upper limbs it is significantly increased, there are flexion contractures of the fingers on both hands (mostly on the left one). Passive fingers contractures reversal is difficult. There were no feet deformities or craniofacial anomalies. Hereditary history is burdened: child’s father (1984 year of birth), great-grandfather and cousin uncle (on the paternal line) have finger deformities on both hands. Father and relatives have not been diagnosed before. The clinical diagnosis was established after consultation of geneticist and orthopedist: «Distal arthrogryposis, type 2A, autosomal dominant type of inheritance with incomplete penetrance». The molecular genetic testing was not performed due to the refusal of the child's parents. Therapeutic gymnastics, stage plaster correction of finger contractures were performed in the department during the child hospitalization (21 days). Positive dynamics was noted: finger extension amplitude has increased.Conclusion. Early conservative treatment of infants with arthrogryposis allows to correct musculoskeletal deformities. Early initiation of treatment is expected to increase the amplitude of both passive and active movements in the hand joints, whereas, it will improve the function of hand grasping and self-care capacities of patients.https://vsp.spr-journal.ru/jour/article/view/2451артрогрипозврожденные контрактурыдетиноворожденныеклинический случайортопедия |
| spellingShingle | Vasily P. Gavrilyuk Yana V. Evseeva Oleg V. Cherevko Dmitry A. Severinov Distal Arthrogryposis in Newborn: Clinical Case Вопросы современной педиатрии артрогрипоз врожденные контрактуры дети новорожденные клинический случай ортопедия |
| title | Distal Arthrogryposis in Newborn: Clinical Case |
| title_full | Distal Arthrogryposis in Newborn: Clinical Case |
| title_fullStr | Distal Arthrogryposis in Newborn: Clinical Case |
| title_full_unstemmed | Distal Arthrogryposis in Newborn: Clinical Case |
| title_short | Distal Arthrogryposis in Newborn: Clinical Case |
| title_sort | distal arthrogryposis in newborn clinical case |
| topic | артрогрипоз врожденные контрактуры дети новорожденные клинический случай ортопедия |
| url | https://vsp.spr-journal.ru/jour/article/view/2451 |
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