Conn State Med J 1955 Jun;19(6):464-8
Mymensingh Med J 2021 Apr;30(2):555-558
Dr Aziza Jahan, Resident, MD Paediatrics, Mymensingh Medical College (MMC), Mymensingh, Bangladesh; E-mail:
Treacher collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant inherited disorder with variable expressivity. It affects mainly craniofacial structure that derives from 1st and 2nd branchial arches approximately between the 20th day and 12th week of intrauterine life. This syndrome has different clinical types. Read More
Medicine (Baltimore) 2021 Mar;100(10):e24974
Department of Plastic and Reconstructive Surgery.
Rationale: Custom-made implant is an accepted treatment option for treatment of chest deformity in Poland syndrome. Unlike the raised concerns and awareness for the long-term consequences of breast implants, the long-term complications of customized implants for special purposes like Poland syndrome has not been reported in the literature.Patient Concerns: A 44-year-old male with Poland syndrome presented to our institution complaining of a large bulge and fluctuation on the right chest wall. Read More
J Nerv Ment Dis 2021 03;209(3):151
Department of Psychiatry, University of Maryland School of Medicine, Baltimore, Maryland.
J Hand Surg Asian Pac Vol 2021 Mar;26(1):118-125
Department of Orthopedic Surgery, Kurashiki Central Hospital, Kurashiki, Japan.
Congenital radioulnar synostosis with posterior dislocation of the radial head remains challenging to treat. We describe a three-step treatment method that combines radial shaft osteotomy with a custom-made device, ulnar shaft osteotomy, and local adipofascial flap elevation procedures. For posterior radial head dislocation treatment, osteotomy near the proximal radius cannot recover physiological rotation of the radial head. Read More
Gene 2021 Apr 29;777:145465. Epub 2021 Jan 29.
Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France.
We report a detailed case of type 2 TS due to a p.(Gly402Ser) mutation in exon 8 of the CACNA1C gene. The patient shows a marked prolongation of repolarization with a mean QTc of 540 ms. Read More