China
Africa
Explore chapters and articles related to this topic
Head and Neck Muscles
Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022
Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Warrenkevin Henderson, Hannah Jacobson, Noelle Purcell, Kylar Wiltz
In a male neonate with Meckel syndrome, salpingopharyngeus was absent (Pettersen 1984). It was absent bilaterally in an otocephalic fetus (Lawrence and Bersu 1984). In an individual with a completely bony left pharyngotympanic tube that communicated with the sphenoid sinus, salpingopharyngeus was hypoplastic (Khan et al. 2017).
Central nervous system: Paediatric and neurodevelopmental disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Encephalocele should probably be regarded as part of the anencephaly–spina bifida complex and risks given as such. An important association to recognise is the autosomal recessive Meckel syndrome, in which encephalocele and hypoplasia of the olfactory lobes are accompanied by a variety of other malformations, notably cleft lip or palate, polydactyly, renal cystic disease and eye defects (coloboma, cataract, microphthalmos).
Spina bifida and encephalocele
Published in Prem Puri, Newborn Surgery, 2017
Jothy Kandasamy, Mark A. Hughes, Conor L. Mallucci
Simple isolated encephalocele without associated abnormalities has a better prognosis. Larger lesions, those associated with microcephaly and hydrocephalus, and those forming part of other syndromes (e.g., trisomy 18, Meckel syndrome) have a poorer prognosis.94,95 Anterior encephalocele has a poorer prognosis than posterior encephalocele.
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
Published in Fetal and Pediatric Pathology, 2022
Somya Srivastava, Rani Manisha, Aradhana Dwivedi, Harshita Agarwal, Deepti Saxena, Vinita Agrawal, Kausik Mandal
The sections from the kidneys show replacement of the renal parenchyma by multiple variable sized cysts with intervening mesenchymal tissue. The cortex contained five to seven longitudinal layers of developing glomeruli, corresponding to the gestational age of the fetus. The cysts were suggestive of polycystic kidneys. Glomerular cysts, cartilage, or ducts surrounded by primitive mesenchyme were not identified. The liver parenchyma contained no cysts. Next generation sequencing of fetal cord tissue detected two copy number variants present in trans in 2 genes, TMEM67 (56.2 kb deletion encompassing exon 4 to 28) and KIF14 (60.02 kb deletion spanning exon 4 to 29) (Table 1). Both these genes individually cause Meckel syndrome in an autosomal recessive manner.