Congenital contractural arachnodactyly in two double second cousins: possible homozygosity

Bistritzer, Tzvy; Fried, K.; Lahat, Eli; Dvir, Meidan; Goldberg, Michael

doi:10.1111/j.1399-0004.1993.tb03835.x

Cited by 14 publications

(23 citation statements)

References 16 publications

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“…Comparison of the clinical findings of our case with clinical characteristics of 24 patients described with this condition ( table 1 ) [van den Ende et al, 1992;Bistritzer et al, 1993;Gupta et al, 1995;Phadke et al, 1998;Schweitzer et al, 2003;Guerra et al, 2005;Carr et al, 2007;Leal and Silva 2009;Ali et al, 2010;Anastasio et al, 2010] confirms considerable overlap of our case with the published patients with VDEGS, particularly the facial appearance and the arachnocamptodactyly. The most common anomalies are indeed arachnodactyly, camptodactyly, an unusual facial appearance with blepharophimosis, beaked nose, malar hypoplasia, everted lips, and prominent ears.…”

Section: Discussionsupporting

confidence: 66%

“…VDEGS has been generally considered to be an autosomal recessive entity, given that 3 affected individuals from different families were born to normal and consanguineous parents [van den Ende et al, 1992;Bistritzer et al, 1993;Gupta et al, 1995]. The identification of homozygous mutations in the SCARF2 gene as the underlying cause reported by Anastasio et al [2010] in VDEGS patients from 3 consanguineous families further supports the conclusion that VDEGS is an autosomal recessive entity.…”

Section: Discussionsupporting

confidence: 49%

“…Ali et al [2010] observed cutaneous syndactyly of toes 2 and 3 as a consistent feature in their patients. Further patients with this constellation of anomalies have been reported, reinforcing the hypothesis of an autosomal recessive mode of inheritance [Bistritzer et al, 1993;Schweitzer et al, 2003;Carr et al, 2007;Ali et al, 2010]. Only one report by Leal and Silva [2009] suggested genetic heterogeneity and an autosomal dominant trait based on the observation of 3 affected individuals, 2 brothers and their half-sister, assuming gonadal mosaicism.…”

mentioning

confidence: 88%

“…Bistritzer et al [1993] reported 2 double second cousins from an inbred pedigree suspected to have VDEGS. Cardiac examination and general development were normal.…”

mentioning

confidence: 99%

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Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

et al. 2010

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Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We report on a girl followed from birth up to 3 years of life with a set of peculiar minor anomalies, arachnocamptodactyly of hands and feet, characteristic of VDEGS in association with a 22q11.12 deletion. Recently, the VDEGS gene was mapped to the DiGeorge syndrome region on 22q11.2, and homozygous mutations in the SCARF2 gene were identified. We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation.

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Section: Discussionsupporting

confidence: 66%

Section: Discussionsupporting

confidence: 49%

mentioning

confidence: 88%

“…Bistritzer et al [1993] reported 2 double second cousins from an inbred pedigree suspected to have VDEGS. Cardiac examination and general development were normal.…”

mentioning

confidence: 99%

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Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

et al. 2010

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“…Severe CCA differs from the more common milder form of the condition in that the contractures and arachnodactyly are much more severe and cardiac, gastrointestinal, ocular, genitourinary and respiratory anomalies are often seen (TABLE 1) (Lipson et al, 1974;Gruber et al, 1978;Ho and Khoo, 1979;Bell and Wheller, 1985;Jalaguier et al, 1985;Tamminga et al, 1985;Currarino and Friedman, 1986;Philip et al, 1988;Macnab et al, 1991;Bistritzer et al, 1993;Wang et al, 1996). The cardiac manifestations described include mitral valve prolapse, aortic root dilatation, atrial septal defects and ventriculoseptal defects.…”

Section: Introductionmentioning

confidence: 92%

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

Snape

Fahey²,

McGillivray

et al. 2006

Clinical Dysmorphology

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The severe form of congenital contractural arachnodactyly is usually associated with early mortality due to multisystem complications. Here, we report a 9-year-old male child with severe skeletal manifestations of congenital contractural arachnodactyly. He had none of the cardiovascular or gastrointestinal features that have been described in severe congenital contractural arachnodactyly. He had profound intellectual disability with autism. All exons of FBN2, the gene associated with congenital contractural arachnodactyly, were sequenced and no disease-causing mutation was found. When severe congenital contractural arachnodactyly is diagnosed in the newborn period, parents need to be aware that long-term survival is possible, particularly if no significant extraskeletal complications are present, and that significant neurodevelopmental delay may occur.

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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

et al. 1998

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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed.

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Congenital contractural arachnodactyly in two double second cousins: possible homozygosity

Cited by 14 publications

References 16 publications

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

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