China
Africa
Explore chapters and articles related to this topic
Abnormal Skull Shape
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Encephalocele is associated with a defect of the skull. Posterior encephaloceles are much more common than at other sites. The size is variable, ranging from larger than the skull to very small—so as to easily be missed. One should also look for features of Meckel–Gruber syndrome (occipital encephalocele, polycystic kidneys, polydactyly), as it has autosomal recessive inheritance.
Cranial and Facial Defects
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Microcephaly is defined as an abnormally small head measuring more than 3 SD below the normal. The etiology of this anomaly is unknown. It has been described in fetuses with chromosomal abnormalities, mostly trisomies, and as part of the Meckel-Gruber syndrome including microcephaly, encephalocele, polycystic kidneys, and polydactyly. True microcephaly caused by intrauterine damage during embryogenesis is regularly associated with severe mental retardation.
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
Synonyms: MKS; MES; Meckel-Gruber syndrome; dysencephalia splanchnocystica; Gruber syndrome; includes: type 1; type 2; type 3; type 4 (Meckel-like cerebroreno-digital syndrome); type 5; type 6; type 7 (renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst or Goldston syndrome); type 8
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation
Published in Ophthalmic Genetics, 2020
Madeline Williamson, Elias Traboulsi, Meghan DeBenedictis
Leber congenital amaurosis (LCA; MIM $204000) describes a type of retinal dystrophy that manifests at a very early age as a result of retinal pigment epithelium and rod and cone photoreceptor cell death. It is characterized by congenital nystagmus, photophobia, severe visual impairment, and severely reduced or extinguished responses on electroretinogram. Senior-Loken syndrome includes the LCA phenotype of the retina along with renal disease most commonly presenting as juvenile nephronophthisis that can progress to kidney failure that may eventually require transplantation. Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, respiratory abnormalities in early infancy, and a characteristic molar tooth sign on brain MRI (2,3). Patients may also have ocular coloboma, hepatic fibrosis, and congenital cystic kidney disease (4,5). Meckel-Gruber syndrome is the most severe CEP290-related disease and is nearly always fatal by the neonatal period. Patients have intrauterine growth retardation with systemic abnormalities including cystic kidneys, polydactyly, encephalocele, and liver fibrosis (6).
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.
Renal ciliopathies: promising drug targets and prospects for clinical trials
Published in Expert Opinion on Therapeutic Targets, 2023
Laura Devlin, Praveen Dhondurao Sudhindar, John A. Sayer
Meckel Gruber Syndrome (MKS) is a rare ciliopathy syndrome characterized by NPHP associated with skeletal defects and developmental abnormalities, often resulting in embryonic and postnatal lethality [106]. Causative genes have been identified for 60% of MKS cases, mutations of which are present in the MKS complex located at the transition zone. It contains the core proteins; B9D1, B9D2, TCTN1, TCTN2, TCTN3, CC2D2A, TMEM216, TMEM67, MKS1, and TMEM237. The MKS complex is thought to be involved in transition zone biogenesis and regulation of trafficking in and out of the primary cilium [6,13,107].