scholarly journals VP11.11: Ruptured omphalocele: a rare malformation and whose prenatal sonographic differentiation from a gastroschisis is not always clear

2021 ◽  
Vol 58 (S1) ◽  
pp. 139-139
Author(s):  
J. Basly ◽  
F. Mraihi ◽  
O. Mchirgui ◽  
O. Zargouni ◽  
H. Ben Ahmed ◽  
...  
Keyword(s):  
Rare Malformation ◽  
Ruptured Omphalocele

Pierquin Syndrome: Report of a New Case

2020 ◽  
Author(s):  
Francisco Cammarata-Scalisi ◽  
Colin Eric Willoughby ◽  
María Angelina Lacruz- Rengel ◽  
Enrico Silvio Bertini ◽  
Michele Callea
Keyword(s):  
Congenital Heart ◽  
Autosomal Recessive ◽  
Malformation Syndrome ◽  
Postaxial Polydactyly ◽  
Phenotypic Spectrum ◽  
Dandy Walker Malformation ◽  
Rare Malformation ◽  
Walker Malformation ◽  
Genetic Entity ◽  
Syndrome Report

AbstractPierquin syndrome is a rare genetic entity characterized by the association of Dandy–Walker malformation and postaxial polydactyly. The incidence is uncertain with only six cases previously reported in the literature. In this study, we reported a new case of Pierquin syndrome born from consanguineous parents, characterized by Dandy–Walker malformation, postaxial polydactyly, and congenital heart disease. The case reinforces an autosomal recessive modality of inheritance and expands the phenotypic spectrum of this rare malformation syndrome.

scholarly journals Tubular subtotal form of the small intestinal doublication

2020 ◽  
Vol 10 (1) ◽  
pp. 75-80
Author(s):  
Andrei V. Pisklakov ◽  
Denis A. Fedorov ◽  
Sergey V. Moroz ◽  
Vyacheslav I. Ponomarev ◽  
Anatoly V. Lysov ◽  
...  
Keyword(s):  
Gastric Mucosa ◽  
Mucous Membrane ◽  
Complete Removal ◽  
Proximal Part ◽  
Pancreatic Tissue ◽  
Intestinal Duplication ◽  
Common Wall ◽  
Rare Malformation ◽  
Small Intestinal ◽  
Mini Laparotomy

Duplication of the gastrointestinal tract is a relatively rare malformation. The incidence is approximately 1 in 10 000 live births with the small intestinal duplication in most cases. Malformations with a long duplication part are considered technically complex. A successfully treated clinical case of the subtotal small intestinal duplication in a child is presented in the article. The mid-median mini-laparotomy was performed and a subtotal 1 meter length small intestinal duplication was revealed (from the Treitzs ligament to the ileum in 50 cm from the ileocolic valve). The proximal part of the intestinal duplication and its mucous membrane of the distal part with the common wall were completely removed. Histological examination found ectopia of the gastric mucosa and pancreatic tissue. Surgical treatment of this malformation is aimed at the complete removal of the duplication part due to possible ectopia of the gastric mucosa or pancreatic tissue. If the resection of an entire part of the intestinal duplication is technically impossible, the mucous membrane can be removed.

scholarly journals Pelvic pain in young girls: not only dysmenorrhoea!

2018 ◽  
pp. bcr-2018-226041
Author(s):  
Vera Furtado Veiga ◽  
Barbara Ribeiro ◽  
Hermínia Afonso ◽  
Isabel Reis
Keyword(s):  
Abdominal Pain ◽  
Pelvic Pain ◽  
Urinary Symptoms ◽  
Imperforate Hymen ◽  
Retrograde Menstruation ◽  
Young Girls ◽  
Gynaecological Examination ◽  
Rare Malformation ◽  
Vaginal Distension

Imperforate hymen is the most frequent cause of haematocolpos, although it is a rare malformation (1:2000). We present two cases of young girls with cyclic abdominal pain and urinary symptoms. At gynaecological examination, they all presented imperforate hymen and ultrasound revealed significant vaginal distension. X-shaped hymenectomy was performed in all patients. The later the diagnosis of imperforate hymen, the higher the risk of complications like haematometra, haematosalpinx, haemoperitoneum and infections such as tubo-ovarian abscesses, peritonitis and endometriosis (retrograde menstruation theory).

scholarly journals Sonographic Findings in Adult Congenital Madelung Deformity: A Case Study

2019 ◽  
Vol 36 (1) ◽  
pp. 65-71
Author(s):  
Viviane Créteur ◽  
Afarine Madani ◽  
Stefano Bianchi
Keyword(s):  
Distal Radius ◽  
Imaging Technique ◽  
Distal Radioulnar Joint ◽  
Pronator Quadratus ◽  
Correlative Imaging ◽  
Madelung Deformity ◽  
Cortical Defect ◽  
Adult Congenital ◽  
Rare Malformation

This case study describes six sonographic findings, with correlative imaging, in an adult patient with congenital Madelung deformity. Two are typical of congenital Madelung deformity: a thick volar hyperechoic band extending from the ulnar side of the distal radius toward the lunate-triquetrum area, the so-called Vickers ligament, adjacent to the radiotriquetral ligament, and a cortical defect on the ulnar and volar side of the distal radius. Other findings may be also observed, such as a narrowed distance between the Lister tubercle and the distal radioulnar joint, a dorsal subluxation of the ulnar head, an extensor tendons entrapment and pronator quadratus modifications. Although the diagnosis of congenital Madelung deformity is based usually on clinical examination, this rare malformation may remain undiscovered until adulthood. When sonography is used as the first imaging technique, the sonographic findings of congenital Madelung deformity can facilitate diagnosis and the appropriate radiographs.

Congenital Genu Recurvatum

2020 ◽  
Vol 7 (3) ◽  
pp. 87-88
Author(s):  
Dr. Abhijit Shinde ◽  
Dr. Sunil Natha Mhaske ◽  
Dr. Sonal Shinde
Keyword(s):  
Anterior Dislocation ◽  
Normal Vaginal Delivery ◽  
Normal Position ◽  
Baby Girl ◽  
Passive Stretching ◽  
Genu Recurvatum ◽  
Rare Malformation ◽  
Normal Shape ◽  
Term Baby

Congenital genu recurvatum is a rare malformation characterized by hyperextension of the knee and marked limitation of flexion1. We report a case of a newborn baby with hyperextension of right knee joint and anterior dislocation of tibia on femur. A full term baby girl born by normal vaginal delivery, presented with extreme hyperextension of right knee. Right knee was straightened passively. There were no associated anomalies. Radiograph revealed anterior dislocation of tibia on femur. Both hips were normal. Gentle manipulation followed by above knee slab was used on the first day of life. The slab was removed in three weeks. In three weeks, the knee adopted a normal shape. The slab was discontinued and the mother was advised to continue passive stretching. A follow up at the age of one month showed normal position of the knee.

BLADDER EXSTROPHY ASSOCIATED WITH COMPLETE URETHRAL DUPLICATION: A RARE MALFORMATION WITH EXCELLENT PROGNOSIS

2001 ◽  
pp. 2434-2437 ◽  
Author(s):  
J. L. PIPPI SALLE ◽  
H. SIBAI ◽  
A. I. JACOBSON ◽  
M. FEHRI ◽  
A. BRZEZINSKI ◽  
...  
Keyword(s):  
Bladder Exstrophy ◽  
Urethral Duplication ◽  
Rare Malformation
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