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 Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity

2018 ◽  
Vol 08 (04) ◽  
pp. e328-e331 ◽  
Author(s):  
Nadereh Taee ◽  
Fariba Tarhani ◽  
Mojgan Goodarzi ◽  
Mohammad Safdari ◽  
Amir Bajelan
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Anomaly ◽  
Lower Limb ◽  
Umbilical Artery ◽  
Ambiguous Genitalia ◽  
Single Umbilical Artery ◽  
Rare Congenital Anomaly ◽  
Mermaid Syndrome ◽  
Imperforated Anus ◽  
Urogenital Anomalies

AbstractThe mermaid syndrome (sirenomelia) is an extremely rare anomaly, an incidence of 1 in 100,000 births, in which a newborn born with legs joined together featuring a mermaid-like appearance (head and trunk like humans and tail like fish), and in most cases die shortly after birth. Gastrointestinal and urogenital anomalies and single umbilical artery are clinical outcome of this syndrome. There are two important hypotheses for pathogenesis of mermaid syndrome: vitelline artery steal hypothesis and defective blastogenesis hypothesis. The cause of the mermaid syndrome is unknown, but there are some possible factors such as age younger than 20 years and older than 40 years in mother and exposure of fetus to teratogenics. Here, we introduced 19-year-old mother's first neonate with mermaid syndrome. The mother had gestational diabetes mellitus and neonate was born with single lower limb, ambiguous genitalia, and thumb anomalies, and 4 days after birth, the neonate died due to multiple anomalies and imperforated anus.

scholarly journals Sirenomelia, the Mermaid syndrome: a case report

2019 ◽  
Vol 6 (6) ◽  
pp. 2692
Author(s):  
Charusheela Korday ◽  
Baraturam Bhaisara ◽  
Rupali Jadhav ◽  
Suraj Rathi ◽  
Ubaidulla Shaikh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Umbilical Artery ◽  
Antenatal Diagnosis ◽  
Single Umbilical Artery ◽  
Rare Congenital Anomaly ◽  
Mermaid Syndrome ◽  
Organ Systems ◽  
Increased Risk ◽  
Exact Etiology ◽  
Almost All

Sirenomelia, also known as mermaid syndrome, is a rare congenital anomaly characterized by a single lower extremity which is associated with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems. It is sporadic with no increased risk in subsequent pregnancies. In almost all the cases of sirenomelia, a single umbilical artery (SUA) is present which arises from the abdominal aorta. The exact etiology of sirenomelia is unknown. Sirenomelia can be confidently diagnosed in the 1st trimester while the diagnosis in the 2nd and 3rd trimesters is difficult due to the lack of amniotic fluid in the later gestation. Antenatal diagnosis of this universally lethal condition is desirable so that possible termination of pregnancy can be offered at the earliest. 

scholarly journals Sirenomelia with Potter syndrome: a case report and review of literature

2019 ◽  
Vol 9 (1) ◽  
pp. 400
Author(s):  
Amrita Singh ◽  
Anupma Kumari
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Prenatal Diagnosis ◽  
Lower Extremities ◽  
Rare Condition ◽  
Variable Degree ◽  
Review Of Literature ◽  
Rare Congenital Anomaly ◽  
Mermaid Syndrome ◽  
Vascular Steal

Sirenomelia or mermaid syndrome is a rare congenital anomaly characterized by variable degree of fusion of lower extremities. Awareness to this rare condition is important for prenatal diagnosis and prognosticating the fetus. The exact etiopathogenesis is still an area of research. Two pathogenic hypotheses are the vascular steal hypothesis and the defective blastogenesis hypothesis with exceptions reported in literature.

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 Rare presentation of incomplete male urethral duplication: A case report and review of literature

2021 ◽  
Vol 9 (1) ◽  
pp. 292-296
Author(s):  
Orgeness J Mbwambo ◽  
Alex Mremi ◽  
Mohamed Mbarouk ◽  
Jasper Mbwambo ◽  
Frank Bright ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Postoperative Period ◽  
Surgical Removal ◽  
Urethral Duplication ◽  
Review Of Literature ◽  
Rare Presentation ◽  
Rare Congenital Anomaly ◽  
Accessory Urethra

Urethral duplication is a rare congenital anomaly affecting mainly males. Here, we report a case of urethral duplication in a 19 years old male presented as a scrotal sinus discharging pus for 1 year. Surgical removal of accessory urethra was done and postoperative period was uneventful.

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies

2021 ◽  
Vol 21 ◽  
Author(s):  
Molood Safarirad ◽  
Ali Abbaszadeh Ganji ◽  
Saba Fekrvand ◽  
Reza Yazdani ◽  
Ahmad Vosughi Motlagh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Intellectual Disability ◽  
Definitive Diagnosis ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Rare Congenital Anomaly ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

The rare congenital anomaly of pulmonary sequestration experience and review of literature

2010 ◽  
Vol 26 (4) ◽  
pp. 251-254 ◽  
Author(s):  
Atilla Pekçolaklar ◽  
Necati Çitak ◽  
Muzaffer Metin ◽  
Abdülaziz Kök ◽  
Alper Çelikten ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Pulmonary Sequestration ◽  
Review Of Literature ◽  
Rare Congenital Anomaly

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 Klippel-Feil Syndrome: A Review of Literature and Case Report

2018 ◽  
Vol 1 (1) ◽  
pp. 102-107
Author(s):  
H Mohammad ◽  
I T Annongu ◽  
D D Mue ◽  
D M Chia ◽  
R O Abah ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Review Of Literature ◽  
Rare Congenital Anomaly ◽  
Clinical Presentations ◽  
Complete History ◽  
Radiological Examinations

Though Klippel-Feil syndrome is a rare congenital anomaly and the clinical presentations are varied, a complete history, physical and radiological examinations may reveal the diagnosis.

Sign in / Sign up

Export Citation Format

Share Document