Adams-Oliver syndrome
The article presents the observation of a rare hereditary disease: Adams–Oliver syndrome. In a newborn girl in the postnatal period, a lesion of the distal extremities was revealed in the form of syndactyly of the proximal phalanges of 4–5 and 2–3 fingers, hypoplasia of the nail phalanges of 2–5 fin...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2023-01-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1749 |
| _version_ | 1797875093814116352 |
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| author | L. G. Kiselev N. A. Bessolova M. S. Kopylova D. A. Babitskaya E. D. Seledueva |
| author_facet | L. G. Kiselev N. A. Bessolova M. S. Kopylova D. A. Babitskaya E. D. Seledueva |
| author_sort | L. G. Kiselev |
| collection | DOAJ |
| description | The article presents the observation of a rare hereditary disease: Adams–Oliver syndrome. In a newborn girl in the postnatal period, a lesion of the distal extremities was revealed in the form of syndactyly of the proximal phalanges of 4–5 and 2–3 fingers, hypoplasia of the nail phalanges of 2–5 fingers of the left foot, fusion of the proximal phalanges and the absence of middle and nail phalanges of 2–3 fingers of the right foot, hypoplasia of the terminal phalanx and the absence of the nail plate of the 2nd finger of the left hand. In addition to malformations of the extremities, anomalies in the development of the skin on the scalp in the form of an area of aplasia and outgrowths, represented by sweat gland hyperplasia with a fibroepithelial outgrowth, were noted. Cardiac pathology was manifested by a heart rhythm disturbance of the type of sinus bradyarrhythmia. Adams–Oliver syndrome is a complex disease with phenotypic variability, which causes difficulties in clinical diagnosis. |
| first_indexed | 2024-04-10T01:41:14Z |
| format | Article |
| id | doaj.art-47e2df16f80243ae8bb53f26eef7e5b6 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:41:14Z |
| publishDate | 2023-01-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-47e2df16f80243ae8bb53f26eef7e5b62023-03-13T09:12:53ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282023-01-01676939710.21508/1027-4065-2022-67-6-93-971285Adams-Oliver syndromeL. G. Kiselev0N. A. Bessolova1M. S. Kopylova2D. A. Babitskaya3E. D. Seledueva4ФГБОУ ВО «Северный государственный медицинский университет» Минздрава РоссииПеринатальный центр ГБУЗ АО «Архангельская областная клиническая больница»Перинатальный центр ГБУЗ АО «Архангельская областная клиническая больница»Перинатальный центр ГБУЗ АО «Архангельская областная клиническая больницаФГБОУ ВО «Северный государственный медицинский университет» Минздрава РоссииThe article presents the observation of a rare hereditary disease: Adams–Oliver syndrome. In a newborn girl in the postnatal period, a lesion of the distal extremities was revealed in the form of syndactyly of the proximal phalanges of 4–5 and 2–3 fingers, hypoplasia of the nail phalanges of 2–5 fingers of the left foot, fusion of the proximal phalanges and the absence of middle and nail phalanges of 2–3 fingers of the right foot, hypoplasia of the terminal phalanx and the absence of the nail plate of the 2nd finger of the left hand. In addition to malformations of the extremities, anomalies in the development of the skin on the scalp in the form of an area of aplasia and outgrowths, represented by sweat gland hyperplasia with a fibroepithelial outgrowth, were noted. Cardiac pathology was manifested by a heart rhythm disturbance of the type of sinus bradyarrhythmia. Adams–Oliver syndrome is a complex disease with phenotypic variability, which causes difficulties in clinical diagnosis.https://www.ped-perinatology.ru/jour/article/view/1749новорожденныйсиндром адамса-оливерааплазия кожипоперечные дефекты конечностей |
| spellingShingle | L. G. Kiselev N. A. Bessolova M. S. Kopylova D. A. Babitskaya E. D. Seledueva Adams-Oliver syndrome Rossijskij Vestnik Perinatologii i Pediatrii новорожденный синдром адамса-оливера аплазия кожи поперечные дефекты конечностей |
| title | Adams-Oliver syndrome |
| title_full | Adams-Oliver syndrome |
| title_fullStr | Adams-Oliver syndrome |
| title_full_unstemmed | Adams-Oliver syndrome |
| title_short | Adams-Oliver syndrome |
| title_sort | adams oliver syndrome |
| topic | новорожденный синдром адамса-оливера аплазия кожи поперечные дефекты конечностей |
| url | https://www.ped-perinatology.ru/jour/article/view/1749 |
| work_keys_str_mv | AT lgkiselev adamsoliversyndrome AT nabessolova adamsoliversyndrome AT mskopylova adamsoliversyndrome AT dababitskaya adamsoliversyndrome AT edseledueva adamsoliversyndrome |