scholarly journals EP06.08: Antenatal diagnosis of MPPH‐1‐syndrome: a case report of the rare genetic condition with sonographic detection of fetal megalencephaly

2019 ◽  
Vol 54 (S1) ◽  
pp. 263-263
Author(s):  
J. Beyer ◽  
R. Fröber ◽  
I. Schreyer ◽  
A. Weise ◽  
E. Schleussner ◽  
...  
Author(s):  
Hao Yu ◽  
Chongjie Li

AbstractSymphalangism is a rare genetic condition characterized by ankylosis of the proximal interphalangeal (PIP) or/and distal interphalangeal (DIP) joints. The patient presented with fused bilateral PIP joints and poor flexion, and an unsatisfactory range of motion (ROM) in the metacarpophalangeal (MP) and DIP joints. Concomitantly, multi-carpal coalition, proximal carpal malalignment, and ulnar styloid process abnormality were also observed in radiographs obtained at diagnosis. Rehabilitation training of the MP and DIP joints and a wrist supporter were recommended to achieve MP and DIP functional motion and restrict dramatic wrist motion. This is the first case report of symphalangism with multi-carpal coalition and abnormality of the ulnar styloid process to the best of our knowledge.


2020 ◽  
Vol 6 ◽  
pp. 2513826X1989883
Author(s):  
Sarah L. Zhu ◽  
David Choi ◽  
Jenny Santos ◽  
Bernard S. Jackson ◽  
Matthew McRae

This is the first report of pilomatrix carcinoma in a man with C282Y myotonic dystrophy type 1. This pilomatrix carcinoma had originally presented as a rapidly growing recurrence of a histopathologically confirmed pilomatrixoma, removed a year prior. On examination, the fungating mass had measured 10 × 23 cm. A wide local resection with removal of suspicious lymph nodes was preformed, and the resulting defect was reconstructed with a latissimus dorsi myocutaneous flap and skin graft. Histologic investigation of the excised mass confirmed the diagnosis of pilomatrix carcinoma. This is the first reported case of pilomatrix carcinoma in a patient with a genetic condition that often presents with scalp pilomatrixomas. Potential implications of myotonic dystrophy on developing pilomatrix carcinoma are discussed.


Author(s):  
MICHELE GASSEN KELLERMANN ◽  
JOEL HENRIQUE ELLWANGER ◽  
AMANDA OLGA MÜLLER ◽  
HELOISA SOUZA PINTO ◽  
LEO KRAETHER NETO

2018 ◽  
Vol 37 (4) ◽  
pp. 282-286 ◽  
Author(s):  
Hakan Erenel ◽  
Aysegul Ozel ◽  
Funda Oztunc ◽  
Osman Kizilkilic ◽  
Nil Comunoglu ◽  
...  

2017 ◽  
Vol 03 (01) ◽  
pp. E8-E12 ◽  
Author(s):  
Yannick Hurni ◽  
Francesco Vigo ◽  
Begoña von Wattenwyl ◽  
Nicole Ochsenbein ◽  
Claudia Canonica

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