Literature DB >> 25339544

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

C Knopp1, S Rudnik-Schöneborn, K Zerres, M Gencik, S Spengler, T Eggermann.   

Abstract

Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions.
© 2014 Wiley Periodicals, Inc.

Entities:  

Keywords:  Beckwith-Wiedemann; GPC3 mutation; Simpson-Golabi-Behmel; overgrowth syndrome

Mesh:

Year:  2014        PMID: 25339544     DOI: 10.1002/ajmg.a.36825

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  7 in total

1.  Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.

Authors:  Konstantin Ridnõi; Elvira Kurvinen; Sander Pajusalu; Tiia Reimand; Katrin Õunap
Journal:  Mol Syndromol       Date:  2018-06-08

Review 2.  Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.

Authors:  Danielle Christine Maria van der Kaay; Anne Rochtus; Gerhard Binder; Ingo Kurth; Dirk Prawitt; Irène Netchine; Gudmundur Johannsson; Anita C S Hokken-Koelega; Miriam Elbracht; Thomas Eggermann
Journal:  Endocr Connect       Date:  2022-10-10       Impact factor: 3.221

3.  Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA.

Authors:  Ki-Sun Park; Beenish Rahat; Hyung Chul Lee; Zu-Xi Yu; Jacob Noeker; Apratim Mitra; Connor M Kean; Russell H Knutsen; Danielle Springer; Claudia M Gebert; Beth A Kozel; Karl Pfeifer
Journal:  Elife       Date:  2021-08-17       Impact factor: 8.713

4.  SGBS cells as a model of human adipocyte browning: A comprehensive comparative study with primary human white subcutaneous adipocytes.

Authors:  Chia Rou Yeo; Madhur Agrawal; Shawn Hoon; Asim Shabbir; Manu Kunaal Shrivastava; Shiqi Huang; Chin Meng Khoo; Vanna Chhay; M Shabeer Yassin; E Shyong Tai; Antonio Vidal-Puig; Sue-Anne Toh
Journal:  Sci Rep       Date:  2017-06-22       Impact factor: 4.379

Review 5.  Hepatoblastoma in molecularly defined, congenital diseases.

Authors:  Gunther Nussbaumer; Martin Benesch
Journal:  Am J Med Genet A       Date:  2022-04-28       Impact factor: 2.578

6.  Reply to: 'Browning capabilities of human primary adipose-derived stromal cells compared to SGBS cells'.

Authors:  Chia Rou Yeo; Madhur Agrawal; Shawn Hoon; Asim Shabbir; Manu Kunaal Shrivastava; Shiqi Huang; Chin Meng Khoo; Vanna Chhay; Muhammad Shabeer; E Shyong Tai; Antonio Vidal-Puig; Sue-Anne Toh
Journal:  Sci Rep       Date:  2020-06-15       Impact factor: 4.379

Review 7.  Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

Authors:  Joshua Manor; Seema R Lalani
Journal:  Front Pediatr       Date:  2020-10-30       Impact factor: 3.418

  7 in total

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