scholarly journals Caudal Regression Syndrome

2021 ◽  
Vol 4 (3) ◽  
pp. 01-06
Author(s):  
F. Bouchenaki ◽  
K. Badache ◽  
N. Habchi ◽  
M S. Benachour ◽  
S. Bakhti
Keyword(s):  
Clinical Picture ◽  
Maternal Diabetes ◽  
Lower Limbs ◽  
Caudal Regression Syndrome ◽  
Vertebral Anomaly ◽  
Neurological Sequelae ◽  
Caudal Regression ◽  
Rare Malformation ◽  
Clinical Stabilization ◽  
Gastrointestinal Abnormalities

Caudal Regression Syndrome (CRS) is a rare malformation syndrome associating to varying degrees agenesis of the coccygeal or lumbosacral vertebrae.This vertebral anomaly can therefore be reduced clinically to a simple coccygeal agenesis without any deficit or even lumbosacral agenesis accompanying a clinical picture with sphincter disorders associated or not with transit disorders and various deficits involving the lower limbs.This syndrome is accompanied by other orthopedic malformations such as shortening of the lower limbs, and / or gastrointestinal abnormalities, see also genitourinary as well as cardiovascular.Its incidence is 1 to 5 cases per 100,000 births. Its precise cause has not yet been identified, but its relationship to maternal diabetes is well established. We report in our study 5 patients with CRS from different clinics whose sphincter disorders were found in the foreground in all our patients and whose results vary according to the inaugural clinical picture. MRI made it possible to refine and confirm the diagnosis highlighting the congenital anomaly and the associated lesions.We have obtained 75% good results and 25% clinical stabilization; nor do we deplore any case of aggravation or death. The interest is to suspect the diagnosis of CRS; document it at the start of the prenatal period and determine its severity and associated abnormalities in order to present options for patient management; because once the diagnosis is made, surgical treatment becomes imperative due to the formidable neurological sequelae compromising the functional prognosis.

scholarly journals Mermaid Syndrome

2019 ◽  
Vol 38 (2) ◽  
pp. 132-134
Author(s):  
Md Abu Bakkar Siddique ◽  
Sudip Saha ◽  
Kallol Bose ◽  
Sudipta Ghorai ◽  
Kalimuddin Khan
Keyword(s):  
Diabetes Mellitus ◽  
External Genitalia ◽  
Maternal Diabetes ◽  
Vascular Supply ◽  
Lower Limbs ◽  
Caudal Regression Syndrome ◽  
Mermaid Syndrome ◽  
Caudal Regression ◽  
Maternal Diabetes Mellitus

We report a case of sirenomelia baby (Mermaid syndrome) born to a twenty three years old female at 37 weeks of gestation. Sirenomelia is characterized by fusion of the lower limbs with absent kidneys, absent external genitalia and other gastrointestinal defects. It results from the failure of normal vascular supply from the lower aorta in vitro, maternal Diabetes mellitus has been associated with caudal regression syndrome and sirenomelia.  

scholarly journals Caudal Regression Syndrome - A Case Report and Literature Review

1970 ◽  
Vol 29 (3) ◽  
pp. 166-169
Author(s):  
S Begum ◽  
R Shelim ◽  
T Begum ◽  
N Nahar
Keyword(s):  
Spinal Cord ◽  
Maternal Diabetes ◽  
Flexion Contracture ◽  
Lower Limbs ◽  
Caudal Regression Syndrome ◽  
Caudal Regression ◽  
Talipes Equinovarus ◽  
Exact Etiology ◽  
History Of ◽  
Control Of Diabetes

Background and Purpose: Caudal regression syndrome (CRS) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop. The severity of the morphologic derangement inversely correlates with residual spinal cord function. The caudal regression syndrome is frequently associated with maternal diabetes. The exact etiology is elusive, though maternal diabetes is one of the important factor; genetic factors, and hypoperfusion might play roles. Recently, the role of teratogens has been studied in animal. Here we report a case of CRS of a newborn baby of diabetic mother. Methods: The history of the patient was taken from parents and physical examination was done. Plain radiographs, USG of abdomen and other investigations were done for evaluation. Results: Agenesis of lower three thoracic, lumbar and sacral vertebrae with multiple congenital anomalies were observed. Lower limbs showed hypoplastic and talipes equinovarus. Hip joints were fixed, flexion contracture of the knees and webbing of Popliteal fossa were present. Other anomalies were dextrocardia and duplex right kidney. Conclusion: CRA is a rare congenital anomaly associated with maternal diabetes. Control of diabetes is necessary to reduce the risk of occurrence. DOI: http://dx.doi.org/10.3329/jbcps.v29i3.9439 JBCPS 2011; 29(3): 166-169

scholarly journals Sirenomelia - Revisited

2018 ◽  
Vol 07 (01) ◽  
pp. 047-051
Author(s):  
Gaddam Vijaya Lakshmi ◽  
Jacob Abraham ◽  
Geena Benjamin
Keyword(s):  
Umbilical Artery ◽  
External Genitalia ◽  
Maternal Diabetes ◽  
Renal Tissue ◽  
Severe Form ◽  
Lower Limbs ◽  
Single Umbilical Artery ◽  
Mermaid Syndrome ◽  
Caudal Regression ◽  
Congenital Condition

AbstractSirenomelia, commonly known as mermaid syndrome is a rare congenital condition, featured by fusion of the lower limbs. This represents the most severe form of caudal regression syndrome, in which all the structures from the caudal mesoderm fail to develop properly. There is a marked deformity in the musculoskeletal system at the caudal end of the trunk and lower limbs. It is invariably associated with visceral malformations of the urogenital and gastrointestinal systems like agenesis or hypoplasia of renal tissue, blind termination of the colon, absent external genitalia and imperforate anus. It is usually associated with single umbilical artery. Though association with maternal diabetes has been described, the causative mechanisms remain unclear. The condition is generally fatal, due to associated developmental anomalies ofkidneys and other viscera.

scholarly journals Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
F. Fontanella ◽  
M. C. van Maarle ◽  
P. Robles de Medina ◽  
R. J. Oostra ◽  
R. R. van Rijn ◽  
...  
Keyword(s):  
Ultrasound Examination ◽  
Geographical Area ◽  
Maternal Diabetes ◽  
Caudal Regression Syndrome ◽  
Developmental Abnormalities ◽  
Sacral Agenesis ◽  
Rare Congenital Disorder ◽  
Caudal Regression ◽  
Spinal Segments ◽  
Sporadic Cases

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 regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.

Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes

2005 ◽  
Vol 25 (3) ◽  
pp. 264-266 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chen-Yu Chen ◽  
Ching-Yi Lin ◽  
Sheng-Wen Shaw ◽  
Wayseen Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Diabetes ◽  
Caudal Regression Syndrome ◽  
Caudal Regression

scholarly journals Particularities of a Fetus with Sirenomelia and Conceptual Separation from Caudal Regression Syndrome

2020 ◽  
Vol 26 (1) ◽  
pp. 48-51
Author(s):  
Martinescu Alina ◽  
Corici Paul Daniel ◽  
Jianu Valentina ◽  
Francu Valentina
Keyword(s):  
Umbilical Artery ◽  
First Trimester ◽  
Lower Limbs ◽  
Complete Fusion ◽  
Caudal Regression Syndrome ◽  
Fetal Autopsy ◽  
First Case ◽  
Caudal Regression ◽  
Last Stage ◽  
Different Characteristics

Abstract Sirenomelia is a very rare congenital anomaly, defined by partial or complete fusion of the lower limbs. Additional malformations may also occur, the phenotype being variable. Over time, sirenomelia has been considered the last stage of the evolution of caudal regression syndrome. However, the different characteristics in the context of the two syndromes, such as the single umbilical artery or, less often, two vessels, renal agenesis and the imperforate anus characteristic of sirenomelia as opposed to caudal regression syndrome where all three umbilical vessels are identified, along with sacral agenesis, led to the separation of the two entities. Sirenomelia is a multifactorial disease, with genetic heterogeneity, most cases being sporadic. Its pathogenesis is incompletely deciphered. Thus, we present a case of sirenomelia, diagnosed after abortion at the end of the first trimester. The fetal autopsy gave us details of skeletal and visceral abnormalities. The sex of the aborted could not be determined due to the incomplete development of the genital tract. To our knowledge, this is the first case reported in Constanta County. We hope that this presentation will be useful in trying to understand the causes of this condition.

scholarly journals Caudal Regression Syndrome: A Rare Case Report

2018 ◽  
Vol 42 (3) ◽  
pp. 159-161
Author(s):  
Lazina Sharmin ◽  
Shaheen Akter ◽  
Md Ismail Hossain ◽  
Abu Saleh Musa
Keyword(s):  
Rare Case ◽  
Maternal Diabetes ◽  
Diabetic Mother ◽  
Abnormal Development ◽  
Type Ii ◽  
Caudal Regression Syndrome ◽  
Early Gestation ◽  
Caudal Regression ◽  
Rare Case Report ◽  
Lower Lumbar

Caudal regression syndrome is a rare disorder characterized by abnormal development of structures in the caudal region of the embryo like lower lumbar and sacral vertebrae, urogenital and lower gastrointestinal system occur in early gestation. It’s a sporadic disorder. Maternal diabetes, genetic predisposition and vascular hypo perfusion have been shown to be associated with its pathogenesis. Here we report a newborn of diabetic mother diagnosed as caudal regression syndrome type II. Treatment for this patient is multidisciplinary. So, after giving necessary supportive treatment we discharged the patient with proper advice of his further management to improve the prognosis. Bangladesh J Child Health 2018; VOL 42 (3) :159-161

Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity

2012 ◽  
Vol 28 (10) ◽  
pp. 1819-1821 ◽  
Author(s):  
Mukul Aggarwal ◽  
Vikrant Sood ◽  
Shivani Deswal ◽  
K. C. Aggarwal
Keyword(s):  
Maternal Diabetes ◽  
Rare Entity ◽  
Caudal Regression Syndrome ◽  
Caudal Regression
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