A morpho-etiological description of congenital limb anomalies

Tayel, Shawky; Fawzia, Mme; Al-Naqeeb, Niran; Gouda, Said; Awadi, S A Al; Naguib, Kamal K.

doi:10.5144/0256-4947.2005.219

Cited by 13 publications

(9 citation statements)

References 29 publications

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“…Disruptive events appear to be the most common cause of congenital limb defects (CLD) [ 3 ]. During the gestational period, disruptive events, such as amniotic band or vascular disruptions, may cause amputation or hypoperfusion of the developing limbs [ 4 ]. Various CLD are due to prenatal exposure to different teratogens [ 5 ], the best-known example of which is thalidomide, which caused a wide range of CLD, especially intercalary reductions and preaxial defects, in the 1960s [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

Vasluian

Sluis

Essen

et al. 2013

BMC Musculoskelet Disord

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BackgroundReported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964–1977 to 30.4/10,000 births in Scotland from 1964–1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands.MethodsIn a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981–2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992–2010 using χ2 tests, as well as CLD association with anomalies affecting other organs.ResultsThe birth prevalence of CLD was 21.1/10,000 births for 1981–2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P < 0.01) in 1992–2010. Of 1,048 children with CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016).ConclusionsThe birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992–2010.

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Section: Introductionmentioning

confidence: 99%

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

Vasluian

Sluis

Essen

et al. 2013

BMC Musculoskelet Disord

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“…Causal mutations for these disorders in cattle are still unknown and non-genetic factors are discussed. For instance in humans, disruptive events during the gestation, such as amniotic band or vascular disruptions, may cause amputation or hypoperfusion of developing limbs, and result in malformations [41]. Furthermore, various congenital limb defects may be caused by prenatal exposure to various teratogens [42].…”

Section: Discussionmentioning

confidence: 99%

A 50-kb deletion disrupting the RSPO2 gene is associated with tetradysmelia in Holstein Friesian cattle

et al. 2020

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Background Tetradysmelia is a rare genetic disorder that is characterized by an extremely severe reduction of all limb parts distal of the scapula and pelvic girdle. We studied a Holstein Friesian backcross family with 24 offspring, among which six calves displayed autosomal recessive tetradysmelia. In order to identify the genetic basis of the disorder, we genotyped three affected calves, five dams and nine unaffected siblings using a Bovine Illumina 50 k BeadChip and sequenced the whole genome of the sire. Results Pathological examination of four tetradysmelia cases revealed a uniform and severe dysmelia of all limbs. Applying a homozygosity mapping approach, we identified a homozygous region of 10.54 Mb on chromosome 14 (Bos taurus BTA14). Only calves that were diagnosed with tetradysmelia shared a distinct homozygous haplotype for this region. We sequenced the whole genome of the cases’ sire and searched for heterozygous single nucleotide polymorphisms (SNPs) and small variants on BTA14 that were uniquely present in the sire and absent from 3102 control whole-genome sequences of the 1000 Bull Genomes Project, but none were identified in the 10.54-Mb candidate region on BTA14. Therefore, we subsequently performed a more comprehensive analysis by also considering structural variants and detected a 50-kb deletion in the targeted chromosomal region that was in the heterozygous state in the cases’ sire. Using PCR, we confirmed that this detected deletion segregated perfectly within the family with tetradysmelia. The deletion spanned three exons of the bovine R-spondin 2 (RSPO2) gene, which encode three domains of the respective protein. R-spondin 2 is a secreted ligand of leucine-rich repeats containing G protein-coupled receptors that enhance Wnt signalling and is involved in a broad range of developmental processes during embryogenesis. Conclusions We identified a 50-kb deletion on BTA14 that disrupts the coding sequence of the RSPO2 gene and is associated with bovine tetradysmelia. To our knowledge, this is the first reported candidate causal mutation for tetradysmelia in a large animal model. Since signalling pathways involved in limb development are conserved across species, the observed inherited defect may serve as a model to further elucidate fundamental pathways of limb development.

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“…Classification based on the underlying molecular genetic cause is clinically useful since faulty genes, whose protein products have similar functions, also result in disorders with similar clinical characteristics. Of nearly 300 disorders, the genes responsible for skeletal dysplasia have been identified in more than 150 diseases, most of which are monogenic diseases [4,5]. …”

Section: Discussionmentioning

confidence: 99%

The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography

et al. 2012

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SummaryBackground:The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey.Case Report:Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features.Conclusions:Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening.

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A morpho-etiological description of congenital limb anomalies

Cited by 13 publications

References 29 publications

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

A 50-kb deletion disrupting the RSPO2 gene is associated with tetradysmelia in Holstein Friesian cattle

The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography

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