scholarly journals Report of a Sporadic Caudal Regression Syndrome With Cleft Lip and Palate

2016 ◽  
Vol 06 (03) ◽  
pp. 61-63
Author(s):  
Rathika D. Shenoy ◽  
Swathi Sunil Rao ◽  
Vijaya D. Shenoy ◽  
Vikram Shetty
Keyword(s):  
Congenital Malformation ◽  
Lower Limb ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Renal Agenesis ◽  
Tethered Cord ◽  
Caudal Regression Syndrome ◽  
Renal Anomalies ◽  
Unilateral Renal Agenesis ◽  
Caudal Regression

AbstractCaudal regression syndrome is a rare congenital malformation and can be associated with lower limb and renal anomalies. However caudal regression syndrome and cleft lip and palate (CLP) rarely occur together, the prevalence of sacral anomalies in children with CLP being 0.1%. We hereby report an eighteen month old male child with sporadic lumbosacral agenesis type III with tethered cord, hypospadias, unilateral renal agenesis and CLP for its rarity.

Congenital Renal Anomalies in Indian Population

2017 ◽  
Vol 51 (1) ◽  
pp. 12-16 ◽  
Author(s):  
Daisy Sahni ◽  
Anjali Aggarwal ◽  
Tulika Gupta ◽  
Harjeet Kaur ◽  
Kunal Chawla ◽  
...  
Keyword(s):  
Retrospective Analysis ◽  
Congenital Anomalies ◽  
Indian Population ◽  
Renal Agenesis ◽  
Horseshoe Kidney ◽  
Polycystic Kidney ◽  
Renal Anomalies ◽  
Unilateral Renal Agenesis ◽  
Renal Ectopia ◽  
Congenital Renal Anomalies

ABSTRACT The congenital anomalies of kidney are not uncommon. The incidence of renal anomalies varies from 1:400 for horseshoe kidney to 1:10,000 for bilateral renal agenesis. The most of this available data is from western populations. Little or no data is available on incidence of renal anomalies in Indian population. Our objective was to determine the incidence of congenital renal anomalies in Indian population. A retrospective analysis of observations made from 1,900 consecutive autopsies for presence of congenital renal anomalies was done. In 1,900 autopsies, there were nine cases of congenitally anomalous kidneys (42%). These anomalies included three cases of horseshoe kidney (16%), two cases of extrarenal calyces (12%), and one each of renal ectopia with fusion, trilobar kidney, polycystic kidney and unilateral renal agenesis. The incidence of renal anomalies in Indian population is relatively less as compared to their western counterparts. How to cite this article Gupta T, Goyal SK, Aggarwal A, Chawla K, Kaur H, Sahni D. Congenital Renal Anomalies in Indian Population. J Postgrad Med Edu Res 2017;51(1):12-16.

scholarly journals Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients

2016 ◽  
Vol 6 ◽  
pp. 36 ◽  
Author(s):  
Deb K Boruah ◽  
Dhaval D Dhingani ◽  
Sashidhar Achar ◽  
Arjun Prakash ◽  
Antony Augustine ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Pediatric Patients ◽  
Tertiary Care ◽  
Tethered Cord ◽  
Type I ◽  
Care Hospital ◽  
Resonance Imaging ◽  
Caudal Regression Syndrome ◽  
Caudal Regression

Objective: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of caudal regression syndrome (CRS) and concomitant anomalies in pediatric patients. Materials and Methods: A hospital-based cross-sectional retrospective study was conducted. The study group comprised 21 pediatric patients presenting to the Departments of Radiodiagnosis and Pediatric Surgery in a tertiary care hospital from May 2011 to April 2016. All patients were initially evaluated clinically followed by MRI. Results: In our study, 21 pediatric patients were diagnosed with sacral agenesis/dysgenesis related to CRS. According to the Pang's classification, 2 (9.5%) patients were Type I, 5 (23.8%) patients were Type III, 7 (33.3%) patients were Type IV, and 7 (33.3%) patients were of Type V CRS. Clinically, 17 (81%) patients presented with urinary incontinence, 6 (28.6%) with fecal incontinence, 9 patients (42.9%) had poor gluteal musculatures and shallow intergluteal cleft, 7 (33.3%) patients had associated subcutaneous mass over spine, and 6 (28.6%) patients presented with distal leg muscle atrophy. MRI showed wedge-shaped conus termination in 5 (23.8%) patients and bulbous conus termination in 3 (14.3%) patients above the L1 vertebral level falling into Group 1 CRS while 7 (33.3%) patients had tethered cord and 6 (28.6%) patients had stretched conus falling into Group 2 CRS. Conclusion: MRI is the ideal modality for detailed evaluation of the status of the vertebra, spinal cord, intra- and extra-dural lesions and helps in early diagnosis, detailed preoperative MRI evaluation and assessing concomitant anomalies and guiding further management with early institution of treatment to maximize recovery.

Discordant malformation in a monozygotic pregnancy: abdominoschisis and sirenomelia

2017 ◽  
Vol 6 (1) ◽  
Author(s):  
Margarita Alvarez de la Rosa Rodríguez ◽  
Ana Isabel Padilla-Pérez ◽  
Salvatore Andrea Mastrolia ◽  
Ingrid Martínez-Wallin ◽  
Janet Carballo-Lorenzo ◽  
...  
Keyword(s):  
Lower Limb ◽  
Body Wall ◽  
Rare Entity ◽  
Second Trimester ◽  
Caudal Regression Syndrome ◽  
Monochorionic Twins ◽  
Wall Defect ◽  
Abdominal Organs ◽  
Caudal Regression ◽  
Low Prevalence

Abstract Congenital malformations occur in up to 10% of monochorionic twins and are usually discordant. Body wall defect (BWD) is a rare entity of very low prevalence, defined as a combination of various malformations, including fetal body mutilations of thoracic and/or abdominal organs that can be caused by amniotic rupture early in embryonic development. Sirenomelia is a form of caudal regression syndrome that presents with lower limb fusion, among other anomalies. In this report, we will present a second trimester monochorionic diamniotic pregnancy, with BWD-abdominoschisis in one fetus and sirenomelia in the other one. Amniotic bands could not be found. Of particular importance in respect to both malformations is the timing of the insult that could have caused both anomalies.

Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney

2016 ◽  
Vol 16 (3) ◽  
pp. e193-e194 ◽  
Author(s):  
Mustafa Kemal Demir ◽  
Zafer Orkun Toktaş ◽  
Baran Yılmaz ◽  
Akın Akakın ◽  
Orkun Koban ◽  
...  
Keyword(s):  
Tethered Cord ◽  
Split Cord Malformation ◽  
Caudal Regression Syndrome ◽  
Caudal Regression

scholarly journals Epidemiological characteristic of Orofacial clefts and its associated congenital anomalies: retrospective study

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
A. Impellizzeri ◽  
I. Giannantoni ◽  
A. Polimeni ◽  
E. Barbato ◽  
G. Galluccio
Keyword(s):  
Retrospective Study ◽  
Sex Ratio ◽  
Congenital Malformation ◽  
Congenital Anomalies ◽  
Western Europe ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Central Africa ◽  
Orofacial Cleft ◽  
Total Prevalence

Abstract Background To evaluate the relationship between gender, ethnicity/citizenship, clinical phenotype, total prevalence, and the various congenital malformations associated with oral clefts (OC) in Italy across the period 2001–2014. Methods A retrospective analysis (2001–2014) was conducted based on the National Congenital Malformation Registries network of Italy (Emilia-Romagna Registry of Birth Defects [IMER] and Registro Toscano Difetti Congeniti [RTDC]), which were analyzed to investigate time trends, geographical/ethnic clusters, topography, sex ratio, and associated congenital anomalies of OC phenotypes. Results Among 739 registered cases, 29.8% were syndromic or had multi-malformed associated anomalies, compared with 70.2% having isolated orofacial cleft. Cleft lip (CL) was observed in 22%, cleft palate (CP) in 40%, and cleft lip and palate (CLP) in 38% of live births, stillbirths, and terminations of pregnancy for fetal anomaly cases. Other associated conditions were major anomalies of cardiovascular defects (39%), followed by defects of the limbs (28%), neuroectodermal defects (23%), and urogenital malformations (10%). Male-to-female sex ratio was 1:1.14 in CP, 1.22:1 in CL, and 1.9:1 in CLP. Foreigners were represented by 29% from Southeast Asia, 25% from Balkans, 25% from North-Central Africa, 9% from the East, 7% from Western Europe, and 5% from South America. Total prevalence of OC cases ranged from 0.9 (RTDC) to 1.1 (IMER) of 1000 births. Conclusions This retrospective study provides a population-based, clinical-epidemiological description of the orofacial cleft phenomenon. As a relatively frequent congenital malformation, its social and economic impact is worthy of further study. These abnormalities can cause significant problems that may be solved or minimized by early diagnosis and treatment.

scholarly journals Hypoplasia of ribs associated with cleft palate, cleft lip, and unilateral renal agenesis in a neonate dog of undefined breed

2019 ◽  
Vol 40 (1) ◽  
pp. 497
Author(s):  
Keylla Helena Nobre Pacifico Pereira ◽  
Caio Henrique Paganini Burini ◽  
Elton Luís Ritir Oliveira ◽  
Lucas Emanuel Ferreira Canuto ◽  
Luiz Eduardo Cruz Dos Santos Correia ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Autosomal Recessive ◽  
Cleft Lip ◽  
Renal Agenesis ◽  
Present Report ◽  
Autosomal Recessive Inheritance ◽  
Normal Function ◽  
Congenital Defects ◽  
Unilateral Renal Agenesis ◽  
First Case

Congenital defects can cause changes in the normal function or morphology of organs, thus contributing to neonatal mortality. Malformations in dogs occur as a result of genetic factors or by the action of teratogenic agents during pregnancy. Genetic defects can be inherited from one or both parents. These defects are more common in purebred puppies or can even be the result of consanguinity. Teratogenic agents, such as toxins, drugs, infectious diseases, mechanical influences, and irradiation, may affect the litters during gestational development. Hypoplasia of ribs has been described in human newborns. It is a rare and lethal malformation of autosomal recessive inheritance that prevents thoracic expansion and reduces pulmonary compliance, causing respiratory failure. A pregnant bitch of undefined breed was submitted to caesarean section. At birth, a neonate exhibited respiratory distress, and the palpation of the thorax indicated absence of ribs. In addition, the newborn had cleft palate and cleft lip, which led to perform the euthanasia of the animal. Post-mortem examination indicated hypoplasia of ribs and unilateral renal agenesis. As in the canine neonate, hypoplasia of ribs in human newborns is also associated with other malformations, such as cleft lip, cleft palate, and urogenital defects. The present report describes the first case of hypoplasia of ribs associated with other malformations in a canine neonate, the cause being possibly related to a genetic hereditary factor.

scholarly journals A Case Report of a Colorectal and Caudal Duplication Syndrome Associated with Caudal Regression Syndrome

2021 ◽  
Vol 12 (3) ◽  
pp. 319-328
Author(s):  
Dan-Alexandru Iozsa ◽  
Adrian Tulin ◽  
Iulian Slavu ◽  
Monica Ivanov ◽  
Vlad Denis Constantin ◽  
...  
Keyword(s):  
Lower Limb ◽  
Clinical Presentation ◽  
Treatment Plan ◽  
Caudal Regression Syndrome ◽  
Cosmetic Appearance ◽  
Caudal Regression ◽  
Left Lower Limb ◽  
Caudal Duplication ◽  
Urine Continence ◽  
Duplication Syndrome

We describe an uncommon clinical presentation of caudal duplication syndrome and features of caudal regression syndrome in a female infant with complex urogenital and colorectal duplication associated with lipomyleomeningocele and left lower limb hypoplasia. A staged surgical treatment plan was carried out to maintain fecal and urine continence, potential fertility, and cosmetic appearance.

scholarly journals The Sirenomelia Sequence: a Case Report

2017 ◽  
Vol 11 (2) ◽  
pp. 49-51
Author(s):  
Kavita Sreekumar ◽  
Nadia Fernandes ◽  
Maria P Silveira
Keyword(s):  
Renal Agenesis ◽  
Antenatal Diagnosis ◽  
External Genitalia ◽  
First Trimester ◽  
Lower Limbs ◽  
Unilateral Renal Agenesis ◽  
Mermaid Syndrome ◽  
Caudal Regression ◽  
Congenital Condition ◽  
Imperforated Anus

Sirenomelia or mermaid syndrome is a rare congenital condition with a wide phenotypic variation . It was originally named as caudal regression syndrome but it is now known that organs do not regress, they just do not form. An abnormal abdominal and umbilical vascular arrangement of affected individuals, and a primary abnormality in the generation of the mesoderm are two theories suggested for its genesis.  Affected individuals show hypoplastic and fused lower limbs, vertebral abnormalities, and agenesis of the renal system, imperforated anus, and genital organs anomalies. Antenatal diagnosis in the first trimester is critical. We report a case of the mermaid syndrome associated with severe oligohydramnios, Potter’s facies, unilateral renal agenesis, and absent external genitalia.

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