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Case Report :
Case Report : Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome
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- Lennartsson, Otto (författare)
- Department of Pediatrics, Örebro University Hospital, Örebro, Sweden; Department of Medical Sciences, Örebro University, Örebro, Sweden,Örebro Univ Hosp, Dept Pediat, Örebro, Sweden.;Örebro Univ, Dept Med Sci, Örebro, Sweden.
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- Lodefalk, Maria, 1968- (författare)
- Örebro universitet,Institutionen för medicinska vetenskaper,Region Örebro län,Department of Pediatrics, Örebro University Hospital, Örebro, Sweden,Örebro Univ Hosp, Dept Pediat, Örebro, Sweden.;Örebro Univ, Dept Med Sci, Örebro, Sweden.
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- Wehtje, Henrik (författare)
- Department of Orthopedic Surgery, Astrid Lindgrens Children's Hospital, Stockholm, Sweden; Karolinska University Hospital, Stockholm, Sweden; Karolinska Institutet and University Hospital, Stockholm, Sweden,Karolinska Inst, Karolinska Univ Hosp, Astrid Lindgrens Childrens Hosp, Dept Orthoped Surg, Stockholm, Sweden.;Univ Hosp, Stockholm, Sweden.
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- Stattin, Eva-Lena (författare)
- Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
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- Sävendahl, Lars (författare)
- Karolinska Institutet
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- Nilsson, Ola, 1970- (författare)
- Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Pediatrics, Örebro University Hospital, Örebro, Sweden; Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden,Örebro Univ Hosp, Dept Pediat, Örebro, Sweden.;Örebro Univ, Dept Med Sci, Örebro, Sweden.;Univ Hosp, Stockholm, Sweden.;Karolinska Inst, Dept Womens & Childrens Hlth, Div Pediat Endocrinol, Stockholm, Sweden.
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- Stattin, Evalena (författare)
- Uppsala universitet,Medicinsk genetik och genomik
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Department of Pediatrics, Örebro University Hospital, Örebro, Sweden; Department of Medical Sciences, Örebro University, Örebro, Sweden Örebro Univ Hosp, Dept Pediat, Örebro, Sweden;Örebro Univ, Dept Med Sci, Örebro, Sweden. (creator_code:org_t)
- 2021-10-13
- 2021
- Engelska.
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Ingår i: Frontiers in Endocrinology. - : Frontiers Media S.A.. - 1664-2392. ; 12
- Relaterad länk:
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https://doi.org/10.3...
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https://www.frontier...
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https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.3...
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https://urn.kb.se/re...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Objective: To present a rare clinical case of a patient with Tatton-Brown-Rahman syndrome and the outcome of tall stature management with bilateral epiphysiodesis surgery at the distal femur and proximal ends of tibia and fibula.Study Design: Clinical case report.Results: This is a 20-year-old female with a history of proportional tall stature, developmental psychomotor and language delay with autism spectrum behavior and distinctive facial features. At 12 years and 2 months of age she was in early puberty and 172.5 cm tall (+ 2.8 SDS) and growing approximately 2 SDS above midparental target height of 173 cm (+ 0.9 SDS). A bone age assessment predicted an adult height of 187.1 cm (+3.4 SDS). To prevent extreme tall stature, bilateral epiphysiodesis surgery was performed at the distal femur and proximal ends of tibia and fibula at the age of 12 years and 9 months. After the surgery her height increased by 12.6 cm to 187.4 cm of which approximately 10.9 cm occurred in the spine whereas leg length increased by only 1.7 cm resulting in a modest increase of sitting height index from 50% (-1 SDS) to 53% (+ 0.5 SDS). Genetic evaluation for tall stature and intellectual disability identified a de novo nonsense variant in the DNMT3A gene previously associated with Tatton-Brown-Rahman syndrome.Conclusion: Tatton-Brown-Rahman syndrome should be considered in children with extreme tall stature and intellectual disability. Percutaneous epiphysiodesis surgery to mitigate extreme tall stature may be considered.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- DNMT3A
- Tatton-Brown-Rahman Syndrome
- epiphysiodesis surgery
- overgrowth
- tall stature
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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