نتایج جستجو برای: caudal regression syndrome

تعداد نتایج: 930161  

Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopi...

2014
DIVYA JAMES FENN

Caudal regression syndrome (CRS) is a rare neural tube defect which impairs thedevelopment of lower (caudal) half of the body. The spectrum of this disease can vary from isolated partialgenesis of the sacrococcygeal spine to complete absence of sacral, lumbar, or lower thoracic vertebrae. Most of the cases which are reported as the causative agent for CRS are mostly due to a diabetic maternal p...

2016
Jesús Devesa Pablo Devesa

Caudal regression syndrome (CRS) is a congenital abnormality characterized by an 17 incomplete development of the spinal cord (SC) and other abnormalities. We studied a 9-months 18 old CRS child presenting: interruption of SC at L2-L3 level, sacral agenesis, lack of innervation of 19 the inferior limbs (flaccid paraplegia) and neurogenic bladder and bowel. Given the effects of 20 growth hormone...

2010
Lubna Ijaz Afzal Sheikh

Caudal regression syndrome (CRS) is characterized by a group of heterogeneous anomalies involving the distal spinal cord and vertebral column, genitourinary system, hind gut and limbs. The malformation may range from minor anomalies of spine and spinal cord to the extreme, the sirenomelia. Various authors pointed out an overlap of spectrum of anomalies in CRS and VACTERL (vertebral, anorectal, ...

2016
Inbal Samuk Marc Levitt Elena Dlugy Dragan Kravarusic David Ben-Meir Gustavo Rajz Osnat Konen Enrique Freud

Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering ...

2012
Yoshinobu Moritoki Yoshiyuki Kojima Hideyuki Kamisawa Kentaro Mizuno Kenjiro Kohri Yutaro Hayashi

Caudal regression syndrome (CRS) is a rare congenital vertebral anomaly, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities; these signs are useful for both patients and clinicians in the diagnosis of this syndrome. However, in certain cases, clinicians have failed to identify the syndrome due to the lack of apparent anoma...

Journal: :Genes & development 2008
Dorota Szumska Guido Pieles Rachid Essalmani Michal Bilski Daniel Mesnard Kulvinder Kaur Angela Franklyn Kamel El Omari Joanna Jefferis Jamie Bentham Jennifer M Taylor Jurgen E Schneider Sebastian J Arnold Paul Johnson Zuzanna Tymowska-Lalanne Dave Stammers Kieran Clarke Stefan Neubauer Andrew Morris Steve D Brown Charles Shaw-Smith Armando Cama Valeria Capra Jiannis Ragoussis Daniel Constam Nabil G Seidah Annik Prat Shoumo Bhattacharya

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound muta...

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