IVIC syndrome: Report of a third family

Czeizel, A.; Göblyös, P; Kodaj, I

doi:10.1002/ajmg.1320330228

Cited by 13 publications

(3 citation statements)

References 2 publications

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“…Oculo‐otoradial (OOR) and WT syndromes are autosomal dominant disorders that show phenotypic overlap with the present cases in that OOR and WT syndromes are characterized by skeletal anomalies involving the upper extremity, and are associated with mild to moderate thrombocytopenia (Gonzalez et al , 1977; Arias et al , 1980; Czeizel et al , 1989). Additional congenital malformations reported with OORS include radial ray hypoplasia, absent thumbs, impaired hearing, imperforate anus, strabismus and external ophthalmoplegia.…”

Section: Discussionmentioning

confidence: 77%

Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome

et al. 2001

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Summary. The association of bone marrow failure and skeletal defects has been frequently noted, however, the genetic basis for most of these syndromes remains unclear. We describe a previously uncharacterized autosomal dominant syndrome of amegakaryocytic thrombocytopenia associated with radial-ulnar synostosis. The clinical features of this syndrome appear to be distinct from other similar conditions, including Fanconi's anaemia and thrombocytopenia-absent radii (TAR). The physical findings at diagnosis and clinical management of each case are detailed, as well as a discussion of this disorder in the context of other syndromes in which marrow failure and skeletal defects are prominent features. We also review recent developments in molecular genetics that may provide important clues to the underlying aetiology of this condition.

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Section: Discussionmentioning

confidence: 77%

Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome

et al. 2001

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“…A second report of an Italian family occurred in 1988 [Sammito et al, 1988]; and in 1989 a third family from Budapest was also reported [Czeizel et al, 1989]. Phenotypically discordant Turkish monozygotic twin girls were later described [Elçioglu and Berry, 1997].…”

Section: Introductionmentioning

confidence: 96%

IVIC syndrome Is caused by a c.2607delA mutation in the SALL4 locus

Paradisi

Arias

2007

American J of Med Genetics Pt A

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The IVIC syndrome described in 1980 in a large Venezuelan family, is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss; other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. Since 2002, mutations in the SALL4 locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition. A segregation analysis of four SNPs in exon 2 (c.1520T > G, c.1860A > G, c.2037C > T, and c.2392A > C) was carried out in 14 affected and in 15 normal family members. Haplotype T;A;C;A was found to always segregate with the disease. Sequencing the whole coding regions revealed one heterozygous base deletion in exon 3 (c.2607delA) causing a premature stop signal 44 codons downstream (p.Q869fsX44) which segregates with the phenotype, being absent in controls. The large number of affected individuals presumably carrying the same mutation (n = 26) with quite different degrees of involvement allowed a discussion about possible mechanisms for the SALL4 action. The finding of a SALL4 mutation in a family with such a wide pleiotropic spectrum proves that at least Okihiro, acro-renal-ocular and IVIC syndromes are allelic entities.

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Section: Introductionmentioning

confidence: 99%

Chemical modification of olive pomace by various esters and silane

Rabouhi

Boukerrou

Kaci

et al. 2009

J of Applied Polymer Sci

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The olive pomace was modified chemically to improve the interface between the polymer matrix and the cellulosic fillers. The modification was done using various ester types having the same nature, however, with different chain lengths and one silane. Before the surface treatment, the olive pomace was extracted with acetone to remove contaminants on the surface, using Soxhlet apparatus. The transesterification of olive pomace with the different ester components, i.e., vinyl acetate, vinyl propanoate, and vinyl butanoate, and the condensation reaction with dichlorodimethylsilane was confirmed by Fourier transform infrared (FTIR) analysis. Moreover, the treatment of olive pomace with vinyl acetate improves the thermal stability and the sample records higher onset temperature of degradation as measured by thermogravimetric analysis (TGA). The results obtained indicated also that the reaction between the hydroxyl groups of waste flour and the acetyl, propionyl, pivalyl, and silane groups have occurred. The modified wood flours exhibited a decrease in the hydrophilicity as supported by the lower moisture content.

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IVIC syndrome: Report of a third family

Cited by 13 publications

References 2 publications

Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome

Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome

IVIC syndrome Is caused by a c.2607delA mutation in the SALL4 locus

Chemical modification of olive pomace by various esters and silane

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