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Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18. The association between trisomy 18 and congenital hydrocephalus is very rare.
A 4-month-old male Egyptian baby boy was referred to Assiut University hospital for evaluatio...
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Citations
... The clinical manifestations of Edwards syndrome are diverse and often involve various organ systems. Common phenotypic features include low-set ears, micrognathia, a depressed nasal bridge, clenched fists, and rocker bottom feet [3,4]. Additionally, cardiac abnormalities, such as ventricular septal defects and hypertrophic cardiomyopathy, contribute to the complexity of the syndrome [5]. ...
Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder associated with multiple congenital anomalies and high morbidity. This report presents the case of a three-month-old female infant diagnosed with Edwards syndrome, presenting classic phenotypic features, including low-set ears, micrognathia, and a rocker bottom foot. The infant's condition was further complicated by cardiac abnormalities and respiratory distress, necessitating a comprehensive, multidisciplinary approach involving pediatricians, cardiologists, and orthopedic specialists. The diagnostic journey involved addressing challenges related to respiratory distress syndrome, bronchiolitis, and cardiac complications. The management approach underscored the significance of individualized care tailored to the patient's unique needs. Genetic counseling played a pivotal role in providing essential support to the family facing the complexities associated with Edwards syndrome. This case report highlights the intricacies of Edwards syndrome and contributes to the ongoing discourse on refining clinical strategies for enhanced care and compassionate support. Additionally, it emphasizes the need for further research to advance our understanding of this condition and guide future interventions.
... 45 After Down syndrome, trisomy 18 is the second most common autosomal trisomy. 42,46 It is one of many cytogenetic abnormalities associated with hydrocephalus; 3 however, this association is very rare. It is unusual to see CH present alongside trisomy 18 in the absence of other brain abnormalities. ...
... Further research is necessary to determine if this presentation of CH is coincidental or a high-confidence association. 46 Lastly, Furey et al. reported 5 verified de novo CNVs after applying eXome-Hidden Markov Model (XHMM) algorithms to call CNVs from a cohort of 125 WES-sequenced trios, with 2 duplication events occurring at the SHH locus. 29 The protein coded by SHH is the canonical ligand for PTCH1, a high-confidence CH gene that regulates neurogenesis by conveying spatial information to ventral neural progenitor cells in the neural tube. ...
Congenital hydrocephalus (CH), characterized by incomplete clearance of CSF and subsequent enlargement of brain ventricles, is the most common congenital brain disorder. The lack of curative strategies for CH reflects a poor understanding of the underlying pathogenesis. Herein, the authors present an overview of recent findings in the pathogenesis of CH from human genetic studies and discuss the implications of these findings for treatment of CH. Findings from these omics data have the potential to reclassify CH according to a molecular nomenclature that may increase precision for genetic counseling, outcome prognostication, and treatment stratification. Beyond the immediate patient benefits, genomic data may also inform future clinical trials and catalyze the development of nonsurgical, molecularly targeted therapies. Therefore, the authors advocate for further application of genomic sequencing in clinical practice by the neurosurgical community as a diagnostic adjunct in the evaluation and management of patients diagnosed with CH.
... After Down syndrome, Edward syndrome (trisomy 18) is the second most common trisomy among live born fetuses (1,2). Clinicians strive to detect any prenatal chromosomal abnormalities early in the pregnancy. ...
Trisomy 18 (Edwards syndrome) is the second most common trisomy among live
born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000-
16000 live births. Most of the chromosomal abnormalities in fetuses are detected
by prenatal ultrasound findings in the first and second trimesters. In this case re-
port, we present a partial type of trisomy 18 occurring through de novo unbalanced
translocation of chromosomes 18 and 21. The ultrasound features enabling the early
detection of trisomy 18 include a delayed ossification of calvarium combined with
early onset of fetal growth restriction (FGR) and the absence of nasal bone through
performing triple test followed by amniocentesis. Finally, the parents decided to
terminate the pregnancy.
