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Central nervous system: Paediatric and neurodevelopmental disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Ultrasound scanning is now able to detect some cases of hydrocephalus in early pregnancy, especially early developing types accompanying spina bifida, and the severe hydranencephaly, for which the recurrence risk is similar to hydrocephalus, unless syndromal. In other cases, though, hydrocephalus may not develop until later in pregnancy. The Walker-Warburg syndrome, with associated retinal changes, is a rare autosomal recessive cause of hydrocephalus, as is the hydrolethalus syndrome. The combination of enlarged fourth ventricle (sometimes with more general hydrocephalus) with aplasia or hypoplasia of the cerebellar vermis (Dandy-Walker complex) may be part of several more general disorders, but otherwise recurrence risks are similar to those in isolated hydrocephalus.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Arthrogryposis: comprises a heterogeneous non-progressive group of disorders that all include the common feature of multiple congenital joint contractures. Hydrolethalus syndrome is a recessive, genetically heterogeneous disorder which presents with severe hydrocephalus and brain anomalies, polydactyly, cleft palate and often multiple organ malformations. Feingold syndrome is a rare autosomal dominant disorder which may show microcephaly with a prominent occiput, ear anomalies, micrognathia, oesophageal/duodenal atresia, and anomalies of hands and feet represented by hypo-plastic thumbs, clinodactyly of the second and fifth fingers due to hypoplastic middle phalanges and bilateral syndactyly of toes II–III and IV–V.
Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
Published in Annals of Medicine, 2021
Xiaomei Shi, Hui Tang, Jian Lu, Xiue Yang, Hongke Ding, Jing Wu
A wide spectrum of genetic disorders has been reported in association with omphalocele. These disorders, such as Donnai–Barrow syndrome, acrocallosal syndrome and hydrolethalus syndrome, are not detected by either CMA or karyotype and are likely to explain a significant portion of unexplained cases. It may be reasonable to consider exome sequencing as the next step when standard genetic tests do not yield a diagnosis. A recent report shows the prenatal use of WES in diagnosing Donnai–Barrow syndrome in the setting of omphalocele and associated anomalies [17]. In our study, WES was performed to identify possible causal variants in three non-isolated omphalocele cases, and one pathogenic variant was successfully identified. Thus, WES should be a part of the diagnostic workup for any euploid foetus with non-isolated omphalocele, particularly if abnormal pregnancies have occurred repeatedly, as in our case.
Role of Autopsy in Elective Termination of Pregnancy for Fetal Anomaly (ETOPFA): A Study from a Tertiary Care Hospital in India
Published in Fetal and Pediatric Pathology, 2018
Bharti Sharma, Nandita Kakkar, Neelam Aggarwal, Vanita Suri, Neelam Choudhary, Ankit Raina
Neural tube defects (NTD) were the commonest, which can be chromosomal (trisomy 13, 18), syndromal (Meckel Gruber Syndrome) or isolated with multifactorial inheritance and each group has different recurrences and implications. It is crucial to have a complete diagnosis of NTD including microscopic examination of each organ to exclude other conditions. In present study, the diagnosis of Meckel–Gruber syndrome was confirmed in three cases which would have been missed in the absence of autopsy and changed the recurrence rate from 3–5% to 25%. In a similar study by Sankar et al., eight cases of Meckel–Gruber were diagnosed after autopsy over a period of five years [5]. As per literature, isolated Dandy–Walker malformation has very low recurrence rate as compared to its syndromic association. In the present study, there were two cases of isolated Dandy–Walker malformation which were found to have syndromic association after autopsy. One case was of Goldstone syndrome i.e., Renal – hepatic – pancreatic dysplasia with Dandy–Walker malformation and another was a autosomal recessive hydrolethalus syndrome 1 (Dandy–Walker malformation with omphalocele) [7]. These cases need further genetic evaluation and chromosomal analysis.
An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article
Published in British Journal of Neurosurgery, 2022
Amr Ali Hasanain, Mohamed A. R. Soliman, Reem Elwy, Ahmed A. M. Ezzat, Sameh H. Abdel-Bari, Sascha Marx, Alistair Jenkins, Ehab El Refaee, Ahmed Zohdi
A subset of ciliopathies is commonly associated with intellectual disability and brain malformations that can include midbrain and/or hindbrain malformations, agenesis of the corpus callosum, and encephalocele. Neurological defects are a common finding in many ciliopathies, highlighting a critical role for primary cilia in brain development.40 Examples of these syndromes are such as Joubert syndrome, Meckel syndrome, Orofaciodigital syndromes, Bardet–Biedl syndrome, Hydrolethalus syndrome, Pallister–Hall, and Greig syndromes. Most of these syndromes are associated with hydrocephalus.40