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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
Differential diagnosis:Loeys-Dietz syndrome; probably the most similar condition, is characterised by generalised arterial tortuosity and aneurysms, cardiac defects and brain abnormalities; developmental delay can be present. Caused by mutations in the genes TGFBR1 and TGFBR2. Marfan syndrome (p. 534). Congenital contractural arachnodactyly, an autosomal dominant disorder caused by mutations in FBN2, does not show intellectual impairment or craniosynostosis. Homocystinuria caused by a deficiency of the enzyme cysthathionine synthetase, presents with a very similar phenotype and mental retardation but also subluxation of the lens and thrombophilia. Lujan–Fryns syndrome is an X-linked disorder also characterised by marfanoid habitus and mental delay but does not show craniosynostosis and joint contractures. Melnick-Needles syndrome (p. 130); frontometaphyseal dysplasia (p. 126).
Progressive proptosis secondary to pneumosinus dilatans of the ethmoidal sinus in a pediatric patient
Published in Orbit, 2021
Rebeca Rosés Sáiz, Elsa Font Julià, Félix García Ortega, Cristina Piñero Cutillas
Even if several of the articles offered some evidence supporting one or more of these theories, the theory with the most sustaining evidence was by far the ball-valve mechanism (nine articles, according to Ricci JA). The second most supported theory was fibro-osseous dysregulation (six articles) and the mucocele and genetic predisposition with a hormonal trigger (two articles each). Few or no articles supporting the gas-forming microorganism and the theory of hormonal dysregulation of bone metabolism were found in literature. In addition, PD has been reported to occur in association with syndromes like Melnick-Needles syndrome8,16 and Klippel-Trenaunay-Weber syndrome.8,17
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
9) Filamin A associated diseases–Mutation of the FLNA gene is responsible for some rare diseases such as periventricular nodular heterotopia (PVNH) and otopalatodigital syndrome (OPD), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked cardiac valvular dystrophy (XCVD). These diseases reportedly result from missense mutations in filamin A [261–265]. Filamin A is also localized in the nucleolus, where it interacts with the complex of Pol I (RRN3 and RPA40). In the absence of filamin A, Pol I was shown to suppress rRNA gene transcription*** [57,58,190,266–276]