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Quoted phrase not found in phrase index: "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"
Page 1
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Samara A, Gusman M, Aker L, Parsons MS, Mian AY, Eldaya RW. Samara A, et al. Curr Probl Diagn Radiol. 2022 Sep-Oct;51(5):747-758. doi: 10.1067/j.cpradiol.2021.07.002. Epub 2021 Aug 28. Curr Probl Diagn Radiol. 2022. PMID: 34607749 Review.
Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. ...Se …
Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures a …
Neurocutaneous syndromes.
Owen LG, Hanno R. Owen LG, et al. Cutis. 1978 Jun;21(6):848-51. Cutis. 1978. PMID: 95921
The neurocutaneous syndromes are a diverse group of diseases characterized by widespread abnormalities in structures of ectodermal origin, including the skin, eye, and central and peripheral nervous systems. ...These skin markers may be clues to widespread ab …
The neurocutaneous syndromes are a diverse group of diseases characterized by widespread abnormalities in structures of ectodermal …
Introduction to phacomatoses (neurocutaneous disorders) in childhood.
Ruggieri M, Polizzi A, Marceca GP, Catanzaro S, Praticò AD, Di Rocco C. Ruggieri M, et al. Childs Nerv Syst. 2020 Oct;36(10):2229-2268. doi: 10.1007/s00381-020-04758-5. Epub 2020 Sep 17. Childs Nerv Syst. 2020. PMID: 32940773
Guthrie (1931) established the key role of nervous systems and skin manifestations in these conditions and proposed to name them neurocutaneous syndromes (or ectodermoses, to explain the pathogenesis). ...We hereby review the history, classification, genomics, clini …
Guthrie (1931) established the key role of nervous systems and skin manifestations in these conditions and proposed to name them neur …
Synchronous complex Chiari malformation and cleft palate-a case-based review.
Lara-Reyna J, Carlton J, Parker WE, Greenfield JP. Lara-Reyna J, et al. Childs Nerv Syst. 2018 Dec;34(12):2353-2359. doi: 10.1007/s00381-018-3950-3. Epub 2018 Aug 21. Childs Nerv Syst. 2018. PMID: 30128838 Review.
BACKGROUND: The association between mid-facial clefts and Chiari malformation in the medical literature has been restricted to patients with syndromic craniofacial abnormalities. ...Furthermore, we review his two pathologies, cleft palate and Chiari malformation …
BACKGROUND: The association between mid-facial clefts and Chiari malformation in the medical literature has been restricted to patien …
Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach.
Blount JP, George TM, Koueik J, Iskandar BJ. Blount JP, et al. Birth Defects Res. 2019 Nov 15;111(19):1564-1576. doi: 10.1002/bdr2.1588. Epub 2019 Oct 2. Birth Defects Res. 2019. PMID: 31576681 Review.
METHODS: This article summarizes the neurosurgical clinical approach to spinal NTDs by correlating each step of embryonic development of the human nervous system with key management concepts for defects that arise at that step. ...They are more common and often caus …
METHODS: This article summarizes the neurosurgical clinical approach to spinal NTDs by correlating each step of embryonic development of the …
Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.
Jelin AC, Mahle A, Tran SH, Sparks TN, Rauen KA. Jelin AC, et al. Am J Med Genet A. 2023 Feb;191(2):323-331. doi: 10.1002/ajmg.a.63020. Epub 2022 Oct 29. Am J Med Genet A. 2023. PMID: 36308388 Free PMC article.
We systematically delineated the prenatal phenotype, and obstetrical and neonatal outcomes of the RASopathy cardio-facio-cutaneous (CFC) syndrome. A comprehensive, retrospective medical history survey was distributed to parents of children with confirmed CFC in collaborati …
We systematically delineated the prenatal phenotype, and obstetrical and neonatal outcomes of the RASopathy cardio-facio-cutaneous (CFC) …
Orthopaedic conditions in Ras/MAPK related disorders.
Reinker KA, Stevenson DA, Tsung A. Reinker KA, et al. J Pediatr Orthop. 2011 Jul-Aug;31(5):599-605. doi: 10.1097/BPO.0b013e318220396e. J Pediatr Orthop. 2011. PMID: 21654472
METHODS: We prospectively evaluated 60 individuals: 26 with Noonan syndrome, 32 with CFC syndrome, and 2 with Costello syndrome. Each individual underwent a structured orthopaedic history and physical evaluation by an orthopaedic surgeon, and a syndromic …
METHODS: We prospectively evaluated 60 individuals: 26 with Noonan syndrome, 32 with CFC syndrome, and 2 with Costello synd …
Intracranial Calcifications in Young Children.
Dugan SL, Botto LD, Hedlund GL, Bale JF Jr. Dugan SL, et al. Semin Pediatr Neurol. 2018 Jul;26:135-139. doi: 10.1016/j.spen.2017.03.022. Epub 2017 Apr 2. Semin Pediatr Neurol. 2018. PMID: 29961505
We describe 2 children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other …
We describe 2 children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, A …
Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up.
Lygidakis NN, Chatzidimitriou K, Petrou N, Lygidakis NA. Lygidakis NN, et al. Eur Arch Paediatr Dent. 2013 Dec;14(6):417-23. doi: 10.1007/s40368-013-0044-5. Epub 2013 Jun 18. Eur Arch Paediatr Dent. 2013. PMID: 23775592 Review.
BACKGROUND: Solitary median maxillary central incisor syndrome [SMMCI] is an extremely rare anomaly, especially when no other abnormalities are present. ...Also, published sporadic cases have been related with rare variants of ectodermal dysplasia, chromosomal abnor …
BACKGROUND: Solitary median maxillary central incisor syndrome [SMMCI] is an extremely rare anomaly, especially when no other abnorma …
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. ...Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodeve …
In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES …
21 results