VACTERL Association in a Newborn – A Rare Case Report

Syndrome or association VACTERL is a group of several birth defects of congenital anomalies in an individual. There must be at least 3 anomalies simultaneously for this syndrome to be referred, including spinal anomalies, anorectal anomalies, cardiac disorders, esophageal atresia with tracheoesophageal fistula, renal anomaly and limb anomalies. The organs involvement in VACTERL may present different severity and quality, from asymptomatic to life-threatening cases. Various studies have reported the other congenital associations such as cerebrovascular and pulmonary anomalies in addition to the above-mentioned called as the non-VACTERL association. The patient in this study had all 6 VCTERL syndrome criteria. The feature of this patient was the involvement of his limb and kidney anomaly, which were different on both sides. However, in previously reported cases, these two anomalies were both in one direction and on the same side. Finally, the VACTERL syndrome and Non-VACTERL Association in this patient represented in the form of esophageal atresia with trachea esophageal fistula and atrial septal defect, and the presence of a kidney with severe hydronephrosis and sacral agenesis and imperforated anus, recto vesical fistula and limb anomalies in the form of one-phalanx fingers on the left.

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

The 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.

The Sirenomelia Sequence: a Case Report

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.

Teratogenic effect of retinoic acid in swiss mice

PURPOSE: To identify the types of malformations resulting from the administration of retinoic acid (RA) to Swiss mice on different days of pregnancy. METHODS: Twenty-four pregnant Swiss mice were divided into 4 groups of 6 animals each. The experimental groups received a single intraperitoneal injection of RA (70 mg/kg) on gestational days 7, 8 and 9 (D7, D8 and D9), while control animals (C) received only saline solution. RESULTS: Were obtained: exencephaly (C:0; D7:16.1%; D8:25.4%; D9:0), myelomeningocele (C:0; D7:25.8%, D8:30.9%, D9:0), spina bifida occulta (C:0, D7:29%, D8:41.8%, D90), gastroschisis (C:0, D7:6.4% D8:5.4%, D9:0), omphalocele (C:0, D7:6.4%, D8:14.5%, D9:0), lower limb alterations (C:0, D7:74.1%, D8:80%, D9:0), imperforated anus (C:0, D7:100%, D8:100%, D9:100%), and tail agenesis/alteration (C: D7:100%, D8:100%, D9:100%). CONCLUSION: The experimental model using Swiss mice proved to be efficient in the induction of the different types of defects, with the eighth gestational day being the one that most favored the induction of neural tube defect, omphalocele, gastroschisis, lower limb defects, imperforated anus and tail agenesis/alteration. On this basis, this is a useful model for future investigation of neural development and of the formation of the appendicular skeleton.