Sirenomelia With Anhydramnios: A Clue From the Movements of Fetal Limbs

2021 ◽  
Vol 37 (2) ◽  
pp. 207-212
Author(s):  
Rahul Dev Chauhan ◽  
Ipsita Sahoo ◽  
Yashvir Mathur
Keyword(s):  
Umbilical Artery ◽  
External Genitalia ◽  
Lower Limbs ◽  
Lumbosacral Spine ◽  
Rare Entity ◽  
Single Umbilical Artery ◽  
Normal Morphology ◽  
Anal Orifice ◽  
First Case ◽  
Antenatal Detection

Sirenomelia is a rare, lethal congenital malformation of the fetus, typically characterized by the fusion of lower limbs and additional malformations involving the lumbosacral spine and urogenital and gastrointestinal tracts. We report a case of sirenomelia with anhydramnios detected during anomaly scan where the fetus had normal morphology of long bones of the lower limbs. There were associated abnormalities of the lumbosacral spine (caudal dysgenesis). The abortus had fused lower limbs, absent external genitalia and anal orifice, single umbilical artery, and Potter facies. We also highlight the interesting diagnostic challenges faced by us during this antenatal ultrasound. To our knowledge, this is the first case report of sirenomelia where the synchronous movement of lower limbs was a clue that led to the timely antenatal detection of this rare entity. This ultimately helped in perinatal counseling of parents to decide on termination of pregnancy.

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 Fetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Yui Kinjo ◽  
Hitoshi Masamoto ◽  
Hayase Nitta ◽  
Tadatsugu Kinjo ◽  
Tomoko Tamaki ◽  
...  
Keyword(s):  
Umbilical Artery ◽  
Color Doppler ◽  
Abdominal Cavity ◽  
External Genitalia ◽  
Duodenal Atresia ◽  
Lower Limbs ◽  
Single Umbilical Artery ◽  
Normal Bladder ◽  
Anorectal Atresia ◽  
Abdominal Cyst

A 40-year-old pregnant woman presented with a fetal abdominal cyst and oligohydramnios. Color Doppler scan revealed a single blood vessel from the fetal aorta into a single umbilical artery. Severe oligohydramnios limited ultrasonographic evaluation of the fetal lower limbs, kidneys, or bladder. The pregnancy was terminated; the fetus showed fused lower limbs, bulging abdomen, and absent external genitalia and was diagnosed with type III sirenomelia. On autopsy, no normal bladder was observed, but duodenal atresia, anorectal atresia, and right renal agenesis were found. An intra-abdominal cyst, diagnosed histologically as a saccular cloaca, occupied the abdominal cavity. Ultrasonographic diagnosis of fetal sirenomelia is difficult due to poor depiction of the lower limbs. A vitelline artery leading to a single umbilical artery and a fetal abdominal cyst occupying most of the abdominal cavity are considered fetal sirenomelia associated with large defects of the gastrointestinal and genitourinary tracts.

scholarly journals Sirenomelia, the mermaid baby: a case report

2019 ◽  
Vol 8 (11) ◽  
pp. 4609
Author(s):  
Reetika Joshi ◽  
Veino Kuveio Duomai ◽  
Bianchi Sangma
Keyword(s):  
Intrauterine Growth Restriction ◽  
Umbilical Artery ◽  
External Genitalia ◽  
Lower Limbs ◽  
Single Umbilical Artery ◽  
Female Ratio ◽  
Fetal Movements ◽  
Anorectal Atresia ◽  
Male To Female ◽  
Live Baby

Sirenomelia sequence or mermaid syndrome is a rare congenital structural anomaly characterized by different degrees of fusion of lower limbs, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and anorectal atresia. The incidence of sirenomelia is 0.8-1 cases/ 105 births with male to female ratio being 3:1. A malformations patient with 40 weeks of gestation admitted with complaints of decreased fetal movements for one week. An emergency C-section was done in view of term pregnancy with severe oligohydramnios and intrauterine growth restriction with poor bishop’s score. A 1.9 kg live baby with fused lower limbs was delivered. The new born baby had narrow chest, fused both lower limbs and feet with 11 toes, small rudimentary external genitalia, imperforate anus and single umbilical artery. The baby also had features of potter’s facies including low set large ears, receding chin and prominent infraorbital folds. Sirenomelia is a rare fatal congenital anomaly. Early detection by prenatal ultrasound will help in timely termination of pregnancy.

scholarly journals Mermaid syndrome

2017 ◽  
Vol 6 (5) ◽  
pp. 2104
Author(s):  
Nisha Marhatta ◽  
Deepali Raina
Keyword(s):  
World Literature ◽  
Umbilical Artery ◽  
Renal Agenesis ◽  
External Genitalia ◽  
Congenital Deformity ◽  
Intestinal Loop ◽  
Single Umbilical Artery ◽  
Live Births ◽  
Mermaid Syndrome ◽  
The World

Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail. This syndrome was originally stated by Rocheas and Palfya in 16th century. It occurs in about 1 in 100,000 live births. It is also associated with multiple anomalies like renal agenesis, ambiguous external genitalia, imperforate anus, blind intestinal loop and single umbilical artery. Occasionally double inferior Venacava, dextrocardia and angiomatous lumbosacral myelocystocele are reported as well. Most of the Sirenomelia come to an end as stillbirth. Only a few are born alive and survival beyond few hours after delivery is extremely rare. About 300 cases have been reported in the world literature so far.

scholarly journals MON-254 Sympromic Hypogonadism: Co- Existence of Morsier and Klinefelter Syndromes

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fabiola romero ◽  
Sady Arzamendia ◽  
Dahiana Ferreira ◽  
Claudia Neves de Souza ◽  
Helen Lopez ◽  
...  
Keyword(s):  
Klinefelter Syndrome ◽  
External Genitalia ◽  
Psychomotor Retardation ◽  
Septum Pellucidum ◽  
Lower Limbs ◽  
Hormone Deficiency ◽  
Tall Stature ◽  
Male Hypogonadism ◽  
Optic Chiasma ◽  
First Case

Abstract INTRODUCTION: Morsier Syndrome is a rare congenital malformation, characterized by hypoplasia / aplasia of the septum pellucidum and hypoplasia / aplasia of the optic nerves, in addition to pituitary and hypothalamic hormonal deficiencies. Klinefelter Syndrome is a sexual chromosomal genetic alteration, a frequent cause of male hypogonadism, The association of Morsier syndrome and Klinefelter is described below. CLINICAL CASE We report he case of a 12 year-old boy with psychomotor retardation and nystagumsho presented at 14 months of age with growth hormone deficiency (low weight and height,) and diabetes insipuidus with hypernatremia of of 159 mEq and low urinary density (less than 1,005). MRI showed an absence of septum pellucidum, thick right frontal cortical dysplasia with asymmetric appearance of the grooves, small optic chiasma, hypoplastic pitutary gland (3 mm height), compatible with Morsier syndrome. The physical examination draws attention to tall stature, and long lower limbs, facies with prominent forehead and hypertelorism, gynecomastia and small external genitalia for age. Hormonal evaluation revealed hypergonadotropic hypogonadism with a 47 XXY karyoteype suggeting Klinefelter syndrome. CONCLUSION: We report the first case of Morsier syndrome, associated to Klinefelter syndrome. Both syndromes may present with hypogonadism. However, the diagnosis of klinefelter syndrome was made based on the phenotypic characteristics of this patient including hyeprgonadotroic hypogonadism and abnormal karyotype analysis.

scholarly journals Sirenomelia: A Case Report of a Rare Congenital Anomaly and Review of Literature

2016 ◽  
Vol 02 (01) ◽  
pp. 030-032
Author(s):  
Mohammad Khan ◽  
Pallavi Todase
Keyword(s):  
Congenital Anomaly ◽  
Umbilical Artery ◽  
Review Of Literature ◽  
Single Umbilical Artery ◽  
Rare Congenital Anomaly ◽  
Limb Bones ◽  
Mermaid Syndrome ◽  
First Case ◽  
Renal Abnormalities ◽  
Dysplastic Kidneys

AbstractSirenomelia, or the Mermaid Syndrome, is a very rare congenital anomaly. It is associated with varying degrees of fusion of lower limb bones, giving them the appearance of a “mermaid.” It is almost always associated with other birth defects, such as, renal abnormalities, genital anomalies, and cardiac anomalies. We report a case of sirenomelia associated with bilateral multicystic dysplastic kidneys along with bilateral hydronephrosis, severe oligohydramnios, single umbilical artery, absent anal opening, and absent genitals. To the best of our knowledge, this is the first case to be reported from our region.

scholarly journals Inherited interstitial deletion of 3p22.3—p23 involving GPD1L gene

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hoang H. Nguyen ◽  
Krishna Kishore Umapathi ◽  
Richard Dineen ◽  
Raymond Morales ◽  
Mindy H. Li
Keyword(s):  
Brugada Syndrome ◽  
Umbilical Artery ◽  
Incomplete Penetrance ◽  
Single Umbilical Artery ◽  
Gene Deletions ◽  
First Case ◽  
Unexpected Infant Death ◽  
Cardiac Manifestations ◽  
Em Gene ◽  
Vesico Ureteral Reflux

We report the first case of a 294 kb loss, notable for including the entirety of GPD1L, on chromosome 3p22.3—p24 in a 3-year-old girl with multiple congenital anomalies including absent left foot, single umbilical artery, bilateral vesico-ureteral reflux, rectovaginal fistula, and imperforate anus. Although GPD1L mutations have been associated with cardiac arrhythmias, including Brugada syndrome and sudden unexpected infant death syndrome, full deletions in the GPD1L gene have not been reported neither the patient nor her mother, who was later identified to carry the variant, have any signs or symptoms of Brugada syndrome. This may indicate these individuals have findings that have not yet been identified, full gene deletions of GDP1L are not necessarily disease causing, or there is incomplete penetrance of this gene or cardiac manifestations can occur at a later age.

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 A case report of sirenomelia with two umbilical arteries: an unusual finding in a rare case

2021 ◽  
Vol 10 (9) ◽  
pp. 3640
Author(s):  
Swati Trivedi ◽  
Oby Nagar ◽  
J. P. Soni ◽  
Shashank Trivedi ◽  
Prasoon Rastogi
Keyword(s):  
Umbilical Artery ◽  
Tertiary Care ◽  
Lower Limbs ◽  
Care Hospital ◽  
Single Umbilical Artery ◽  
High Risk Factors ◽  
Mermaid Syndrome ◽  
Lower Segment Cesarean Section ◽  
History Of ◽  
Umbilical Arteries

Sirenomelia also known as Mermaid syndrome is a rarely encountered fusion anomaly of the caudal region of body often associated with Potter’s facies, single umbilical artery and various visceral abnormalities which make it irreconcilable with life. Here we report a case of sirenomelia delivered in our tertiary care hospital by lower segment cesarean section to a 24 year old third gravida with no previous live issues. No high risk factors could be identified with the mother including diabetes mellitus. Baby was born alive with Potter’s facies. Both the lower limbs were merging into each other like a mermaid’s tail (hence called mermaid syndrome). Sex of the baby could not be identified and the urogenital and anal orifices were absent. Umbilical cord stump had two umbilical arteries. The baby died after 20 hours of life. There appears to be no definitive modality for diagnosing sirenomelia in the antenatal period. However, if a patient has consistently low AFI without any history of leaking per vaginum, high resolution USG or colour Doppler should be done at the earliest to look for the cause.

Prenatal observation of fragmented duplication of umbilical vein: isolated and associated with single umbilical artery

2017 ◽  
Author(s):  
I.I. Ryabov , K.F. Yusupov , E.À. Pryashnikova
Keyword(s):  
Umbilical Cord ◽  
Umbilical Artery ◽  
Umbilical Vein ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Single Umbilical Artery ◽  
First Case

Two cases of prenatal ultrasound diagnosis of fragmented duplication of umbilical vein are presented. In the first case the fragmented duplication of umbilical vein in the central part of umbilical cord coupled with a single umbilical artery. Thus, if the examination of a number of vessels is carried out on the circumscribed part of umbilical cord only, for example at fragmented duplication of umbilical vein, the single umbilical artery may not be diagnosed.

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