نتایج جستجو برای: sacral agenesis

تعداد نتایج: 10181  

Journal: :Journal of Medical Genetics 1989

Journal: :Archives of disease in childhood 1989
S Nour D Kumar J A Dickson

A range of anorectal malformations with sacral bony abnormalities was found in members from three generations of two kindreds. The anorectal anomaly was low in all but one of the patients. Partial sacral agenesis was the main bony defect in one family, and meningomyelocele and spina bifida occulta were noted in the second. The inheritance pattern in these kinships is autosomal dominant. This ma...

Journal: :acta medica iranica 0
davari tanha f googol n kaveh m

caudal regression syndrome (caudal dysplasia sequence) is a rare congenital malformation. it has a spectrum ranging from simple anal atresia to the absence of sacral, lumbar and possibly lower thoracic vertebrae and the most severe form called sirenomelia (mermaid syndrome). sirenomelia has a sole characteristic, which is the limbs fusion, with multiple internal structural abnormalities particu...

Journal: :British journal of anaesthesia 2005
N Senoglu M Senoglu H Oksuz Y Gumusalan K Z Yuksel B Zencirci M Ezberci E Kizilkanat

BACKGROUND This study determined the landmarks for caudal epidural block (CEB) after morphometric measurements of the sacral hiatus on dry sacral bones. Anatomical features of the sacral hiatus of clinical importance during CEB, along with distances and angles of use in detecting the apex, were measured. This provides detailed knowledge of the anatomy of the sacral hiatus and practical landmark...

2016
F Fontanella M C van Maarle P Robles de Medina R J Oostra R R van Rijn E Pajkrt C M Bilardo

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regres...

2000
Sally Ann Lynch Yiming Wang T Strachan John Burn Susan 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...

2014
Amrish Tiwari DC Naik PG Khanwalkar

Sirenomelia is a rare congenital anomaly with an incidence of one in 100,000 pregnancies. It is also called as Mermaid Syndrome because of fused leg, giving appearance of mermaid’s tail. The cause of the condition is probably due to abnormalities in gastrulation in caudal segments. It was initially termed caudal regression, but it is clear that structures do not regress, they simply do not form...

2011
Sally Ann Lynch

Other names: Currarino triad; ASP (Anal atresia, sacral anomalies, presacral mass); Sacral defect with Anterior Meningocoele Note: Currarino syndrome is a multiple congenital anomalies syndrome characterized by partial agenesis of the sacrum in association with pelvic malformation. Anal atresia and the presence of a pre-sacral mass (teratoma and/or anterior meningocoele) make up the so called C...

Journal: :Journal of Medical Genetics 1983

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