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Page 1
Intracranial arachnoid cysts.
Ahmed AK, Cohen AR. Ahmed AK, et al. Childs Nerv Syst. 2023 Oct;39(10):2771-2778. doi: 10.1007/s00381-023-06066-0. Epub 2023 Jul 19. Childs Nerv Syst. 2023. PMID: 37466684 Review.
The underlying etiology is not entirely known, and they occur in greater proportion in males and in greater incidence with various genetic conditions including Down syndrome, mucopolysaccharidosis, schizencephaly, neurofibromatosis, autosomal dominant polycystic kidney disease (A …
The underlying etiology is not entirely known, and they occur in greater proportion in males and in greater incidence with various genetic c …
Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases.
Mohanty HS, Shirodkar KK, Sharma N, Bind MK, Nandikoor S. Mohanty HS, et al. J Clin Ultrasound. 2019 Oct;47(8):497-500. doi: 10.1002/jcu.22761. Epub 2019 Jul 18. J Clin Ultrasound. 2019. PMID: 31318057
We describe two cases of intracranial cystic lesions associated with acrocallosal syndrome. These fetal anomalies were detected on antenatal sonography and confirmed postnatally. ...
We describe two cases of intracranial cystic lesions associated with acrocallosal syndrome. These fetal anomalies were detecte …
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). ...
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the h …
Anterior Fontanelle Wormian Bone With Exomphalos Major and Dysmorphic Facial Features: A Previously Unseen Association?
Reid TH, Tam A, Antoniou G, Ong J. Reid TH, et al. J Craniofac Surg. 2016 Oct;27(7):1799-1801. doi: 10.1097/SCS.0000000000002962. J Craniofac Surg. 2016. PMID: 27513767
Though common in adult populations, their presence in children can be associated with several conditions such as osteogenesis imperfecta, hypothyroidism, pyknodysostosis, cleidocranial dysostosis, rickets, and acrocallosal syndrome. These conditions encompass a larg …
Though common in adult populations, their presence in children can be associated with several conditions such as osteogenesis imperfecta, hy …
Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.
Qureshi HM, Mekbib KY, Allington G, Elsamadicy AA, Duy PQ, Kundishora AJ, Jin SC, Kahle KT. Qureshi HM, et al. Cereb Cortex. 2023 Mar 10;33(6):3012-3025. doi: 10.1093/cercor/bhac257. Cereb Cortex. 2023. PMID: 35851401 Free PMC article.
Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pat …
Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallos …
Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome.
Subramanian S, Soundara Rajan D, Gaesser J, Wen-Ya Lo C, Panigrahy A. Subramanian S, et al. Pediatr Radiol. 2019 Sep;49(10):1368-1373. doi: 10.1007/s00247-019-04480-8. Epub 2019 Aug 9. Pediatr Radiol. 2019. PMID: 31399769 Free PMC article.
We describe association of olfactory bulb and olfactory tract abnormalities in a child with acrocallosal syndrome caused by kinesin family membrane 7 (KIF7) mutation in sonic hedgehog pathway. ...
We describe association of olfactory bulb and olfactory tract abnormalities in a child with acrocallosal syndrome caused by ki …