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Quoted phrase not found in phrase index: "Lethal congenital contracture syndrome 2"
Page 1
Disorders of nucleotide excision repair.
Rapin I. Rapin I. Handb Clin Neurol. 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. Handb Clin Neurol. 2013. PMID: 23622385 Review.
Its direct and indirect phenotypic consequences are rare, complex, dementing, lethal disorders of children with inadequately understood overlapping genotypes and variable severity. ...Four genes, including XPD, can cause trichothiodystrophy (TTD) with sulfur-deficient, bri …
Its direct and indirect phenotypic consequences are rare, complex, dementing, lethal disorders of children with inadequately understo …
Premature aging syndromes: From patients to mechanism.
Foo MXR, Ong PF, Dreesen O. Foo MXR, et al. J Dermatol Sci. 2019 Nov;96(2):58-65. doi: 10.1016/j.jdermsci.2019.10.003. Epub 2019 Oct 22. J Dermatol Sci. 2019. PMID: 31727429 Free article. Review.
Aging is an inevitable consequence of human life resulting in a gradual deterioration of cell, tissue and organismal function and an increased risk to develop chronic ailments. Premature aging syndromes, also known as progeroid syndromes, recapitulate many clinical …
Aging is an inevitable consequence of human life resulting in a gradual deterioration of cell, tissue and organismal function and an increas …
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Leal GF, et al. J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4. J Bone Miner Res. 2018. PMID: 29178448 Free article.
Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. ...All cases had multiple fractures. Other features ranged from pr …
Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is a …
Restrictive dermopathy: report and review.
Mau U, Kendziorra H, Kaiser P, Enders H. Mau U, et al. Am J Med Genet. 1997 Aug 8;71(2):179-85. doi: 10.1002/(sici)1096-8628(19970808)71:2<179::aid-ajmg11>3.0.co;2-b. Am J Med Genet. 1997. PMID: 9217218 Review.
Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). ...These skin findings usually appear after 22 or 24 weeks of gestation, which is why …
Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes feta …
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ. Bend EG, et al. Neurology. 2016 Sep 13;87(11):1131-9. doi: 10.1212/WNL.0000000000003095. Epub 2016 Aug 24. Neurology. 2016. PMID: 27558372 Free PMC article.
RESULTS: We identified a de novo missense mutation in NALCN, c.1768C>T, in an infant with a severe neonatal lethal form of the recently characterized CLIFAHDD syndrome (congenital contractures of the limbs and face with hypotonia and developmental d …
RESULTS: We identified a de novo missense mutation in NALCN, c.1768C>T, in an infant with a severe neonatal lethal form of the rec …
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN. Ekhilevitch N, et al. Clin Genet. 2016 Jul;90(1):84-9. doi: 10.1111/cge.12707. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26661508
Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at birth. We present a consanguineous Israeli-Druze family with several members presenting with AMC. ...Heterozygous mutations in this gene are a …
Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at bi …
Pontocerebellar hypoplasia associated with respiratory-chain defects.
de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG. de Koning TJ, et al. Neuropediatrics. 1999 Apr;30(2):93-5. doi: 10.1055/s-2007-973467. Neuropediatrics. 1999. PMID: 10401692
Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-ey …
Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-def …
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS. Oliwa A, et al. Am J Med Genet A. 2023 Feb;191(2):546-553. doi: 10.1002/ajmg.a.63019. Epub 2022 Nov 1. Am J Med Genet A. 2023. PMID: 36317804
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. Heterozygous gain-of-function variants in PIEZO2 are known t …
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. Th …
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.
Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM, et al. Chen H, et al. Am J Med Genet. 1984 Apr;17(4):809-26. doi: 10.1002/ajmg.1320170411. Am J Med Genet. 1984. PMID: 6720746
Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining o …
Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiph …
Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report.
Hasegawa A, Hanaoka M, Murakoshi T. Hasegawa A, et al. J Med Ultrason (2001). 2017 Jul;44(3):271-273. doi: 10.1007/s10396-016-0766-1. Epub 2016 Dec 16. J Med Ultrason (2001). 2017. PMID: 27987045
Lethal multiple pterygium syndrome (LMPS) is a fatal hereditary disease associated with abnormalities such as pterygium-induced congenital contractures. ...Ultrasonography findings for the prenatal diagnosis of LMPS include the detection of cutaneous w …
Lethal multiple pterygium syndrome (LMPS) is a fatal hereditary disease associated with abnormalities such as pterygium-induce …
11 results