Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome
Multiple Pterygium syndrome (MPS) is characterized by antecubital, popliteal pterygium, short stature, dysmorphic face, kyphoscoliosis, club foot, genital and cardiac malformations. Mutation in the acetylcholine nicotinergic receptor gamma polypeptide gene (CHRNG) is responsible. Mature, 2700 gr bor...
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| Format: | Article |
| Language: | English |
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Society of Turaz Bilim
2021-09-01
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| Series: | Medicine Science |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=30239 |
| _version_ | 1827360518600392704 |
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| author | Emine Tekin Emine Goktas Huri Sema Aymelek Sultan Aydin Koker Seyma Memur |
| author_facet | Emine Tekin Emine Goktas Huri Sema Aymelek Sultan Aydin Koker Seyma Memur |
| author_sort | Emine Tekin |
| collection | DOAJ |
| description | Multiple Pterygium syndrome (MPS) is characterized by antecubital, popliteal pterygium, short stature, dysmorphic face, kyphoscoliosis, club foot, genital and cardiac malformations. Mutation in the acetylcholine nicotinergic receptor gamma polypeptide gene (CHRNG) is responsible. Mature, 2700 gr born baby hospitalized in intensive care unit due to respiratory distress, syndromic face and contractures. Echocardiography was normal except patent foramen ovale, abdominal, transfontanel, hip, joint ultrasonographies were normal. Karyotype and CHRNG analysis planned by Medical Genetics with preliminary diagnosis of Escobar Syndrome. The patient, consulted with orthopedics and physical therapy departments. When she was 6 months old, brought to the Pediatric Neurology outpatient clinic with tonus increase and contractures. She had head control, but no sitting balance, pterygia in the elbow and knee, rocker bottom, severe scoliosis, and diffuse hemangioma on the face. Chromosome analysis was normal, gene sequence analysis revealed p.Val107Glyfs*29 (c.319_320insG) mutation. Preimplantation genetic diagnosis recommended to the family. [Med-Science 2021; 10(3.000): 1049-53] |
| first_indexed | 2024-03-08T06:48:22Z |
| format | Article |
| id | doaj.art-9fe9d7b389c442a981de421c9a2b3ef6 |
| institution | Directory Open Access Journal |
| issn | 2147-0634 |
| language | English |
| last_indexed | 2024-03-08T06:48:22Z |
| publishDate | 2021-09-01 |
| publisher | Society of Turaz Bilim |
| record_format | Article |
| series | Medicine Science |
| spelling | doaj.art-9fe9d7b389c442a981de421c9a2b3ef62024-02-03T07:28:56ZengSociety of Turaz BilimMedicine Science2147-06342021-09-0110310495310.5455/medscience.2020.11.23930239Hemangioma: A rare association of Escobar (Multiple pterygium) syndromeEmine Tekin0Emine Goktas1Huri Sema Aymelek2Sultan Aydin Koker3Seyma Memur4Giresun University, Maternity and Children Training and Research Hospital Van Training and Research Hospital Bursa Municipality Hospital Antalya Training and Research Hospital Istanbul Kanuni Sultan Suleyman Training and Research HospitalMultiple Pterygium syndrome (MPS) is characterized by antecubital, popliteal pterygium, short stature, dysmorphic face, kyphoscoliosis, club foot, genital and cardiac malformations. Mutation in the acetylcholine nicotinergic receptor gamma polypeptide gene (CHRNG) is responsible. Mature, 2700 gr born baby hospitalized in intensive care unit due to respiratory distress, syndromic face and contractures. Echocardiography was normal except patent foramen ovale, abdominal, transfontanel, hip, joint ultrasonographies were normal. Karyotype and CHRNG analysis planned by Medical Genetics with preliminary diagnosis of Escobar Syndrome. The patient, consulted with orthopedics and physical therapy departments. When she was 6 months old, brought to the Pediatric Neurology outpatient clinic with tonus increase and contractures. She had head control, but no sitting balance, pterygia in the elbow and knee, rocker bottom, severe scoliosis, and diffuse hemangioma on the face. Chromosome analysis was normal, gene sequence analysis revealed p.Val107Glyfs*29 (c.319_320insG) mutation. Preimplantation genetic diagnosis recommended to the family. [Med-Science 2021; 10(3.000): 1049-53]http://www.ejmanager.com/fulltextpdf.php?mno=30239escobar syndromeautosomal recessivehemangioma |
| spellingShingle | Emine Tekin Emine Goktas Huri Sema Aymelek Sultan Aydin Koker Seyma Memur Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome Medicine Science escobar syndrome autosomal recessive hemangioma |
| title | Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome |
| title_full | Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome |
| title_fullStr | Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome |
| title_full_unstemmed | Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome |
| title_short | Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome |
| title_sort | hemangioma a rare association of escobar multiple pterygium syndrome |
| topic | escobar syndrome autosomal recessive hemangioma |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=30239 |
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