Sirenomelia or "mermaid syndrome" is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome.
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Objective: While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.
Methods: An institutional database was retrospectively queried for all pediatric patients with VACTERL association.
A Case of a Newborn Presenting With a VACTERL-Like Association.
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFEsophageal Lung and VACTERL Association Combined with Dysmorphic Features.
Isr Med Assoc J
December 2024
Department of Neonatal Intensive Care, Schneider Children's Medical Center, Petah Tikva, Israel, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Co-occurrence of Unicornuate Uterus with Noncommunicating Functioning Rudimentary Horn and VACTERL Association-A Case Report.
J Pediatr Adolesc Gynecol
November 2024
Medical Faculty of Ivane Javakhishvili Tbilisi State University, Tbilisi, Georgia.
Introduction: The co-occurrence of a unicornuate uterus with a noncommunicating, functioning rudimentary horn and VACTERL association represents an extremely rare condition, with only 3 similar cases reported in the literature.
Case: The patient, aged 12 years and 9 months, presented with pelvic pain and severe dysmenorrhea, which started shortly after her menarche at 12 years and 4 months. At birth, she exhibited 3 characteristic components of VACTERL association: bronchoesophageal fistula/esophageal atresia, anal atresia, and polydactyly.
Role of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.
Orthod Craniofac Res
November 2024
Department of Paediatric Respiratory and Sleep Medicine, Queensland Children's Hospital, South Brisbane, Australia.
Article Synopsis
- Upper airway obstruction (UAO) in infants, especially those with anatomical mid-face differences, is challenging to manage, and this study focuses on the use of a nasopharyngeal airway (NPA) as a treatment method.
- The study evaluated 67 infants who had NPA inserted, noting that a significant portion had various syndromes like Pierre Robin sequence, and found no complications from NPA usage.
- Results showed improved respiratory metrics after NPA insertion, indicating that it is an effective and safe noninvasive option for managing severe UAO in this population, with a call for more research to optimize treatment strategies.
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