نتایج جستجو برای: sacral agenesis

تعداد نتایج: 10181  

Journal: :Journal of medical genetics 2000
S A Lynch Y Wang T Strachan J Burn S Lindsay

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allow...

Journal: :Journal of Ayub Medical College, Abbottabad : JAMC 2015
Malik Mahmood Alam

This newborn was delivered full term normal vaginal delivery to a mother who had uncontrolled Diabetes. Baby had bilateral hypotonia in lower limbs and a sacral dimple. X-ray show absent vertebrae below 2 lumbar. Lumbosacrococcygeal agenesis is one of the complications of uncontrolled Maternal Diabetes. In general population the incidence of this condition is less than 0.01%. 16% of the patient...

Journal: :Journal of medical genetics 1992
M D Crawfurd J Cheshire T M Wilson C R Woodhouse

occurrence. We present here a report of a pair of twins discordant for sacral agenesis. Blood group and HLA determinations and minisatellite DNA probes were used to establish conclusively that these twins were identical. Twin brothers were born at 34 weeks' gestation on 4.1.63. Twin 2 was of lower birth weight at 2069 g and was born with hypospadias and chordee of the penis. He had sacral agene...

Journal: :Canadian journal of surgery. Journal canadien de chirurgie 2003
Michael N Colapinto Erika A M Vowinckel Nicholas D Colapinto

complaint and is frequently secondary to poor bowel or dietary habits. Organic causes include endocrine or electrolyte abnormalities, colonic neoplasm or other obstructing mass lesions, and neurologic dysfunction such as Hirschsprung’s disease. Constipation that is refractory to treatment or results in complications such as fecal impaction warrants consideration of occult causes. One rare cause...

Journal: :Arquivos de neuro-psiquiatria 1995
C A Funayama M De F Turcato R Moura-Ribeiro G M Rocha J M Pina Neto M V Moura-Ribeiro

A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal dominant inheritance is demonstrated for lower cord malformation, and environmental factors (chromic acid or fumes) are discussed.

Journal: :Romanian Neurosurgery 2023

Introduction: Currarino Syndrome (CS) is a rare entity characterized by triad of sacral agenesis, anorectal malformations, and pre-sacral masses. CS typically diagnosed during the first decade life.
 Case Description: We present case incomplete syndrome manifesting in 36-year-old lady who presented with back pain, urinary retention, anal paresthesia, lower limb weakness. The patient underw...

Journal: :Electronic Journal of General Medicine 2016

Journal: :Journal of Pediatric Neurosciences 2013

Journal: :The Kurume Medical Journal 1991

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