scholarly journals Management of a patient with a rare congenital limb malformation syndrome after SARS‐CoV‐2 vaccine‐induced thrombosis and thrombocytopenia (VITT)

2021 ◽  
Author(s):  
Sandheeah Ramdeny ◽  
Ailidh Lang ◽  
Sara Al‐Izzi ◽  
Alexander Hung ◽  
Imran Anwar ◽  
...  
Keyword(s):  
Malformation Syndrome ◽  
Limb Malformation ◽  
Congenital Limb

Children

2011 ◽  
Author(s):  
David Warwick ◽  
Roderick Dunn ◽  
Erman Melikyan ◽  
Jane Vadher
Keyword(s):  
Poland Syndrome ◽  
Arthrogryposis Multiplex Congenita ◽  
Limb Malformation ◽  
Congenital Limb ◽  
Cleft Hand

General considerations 522Embryology 524Ossification 526Functional hand development 527IFSSH classification of congenital limb malformation 528Radial dysplasia (radial club hand) 530Ulnar dysplasia (ulnar club hand) 536Cleft hand 540Symbrachydactyly 544Arthrogryposis multiplex congenita (AMC) 546Poland syndrome 548Syndactyly 550...

scholarly journals The operative treatment of congenital limb malformation—part I

1980 ◽  
Vol 4 (3) ◽  
pp. 135-144 ◽  
Author(s):  
E. Marquardt
Keyword(s):  
Operative Treatment ◽  
Limb Malformation ◽  
Congenital Limb

scholarly journals The operative treatment of congenital limb malformation–part III

1981 ◽  
Vol 5 (2) ◽  
pp. 61-67 ◽  
Author(s):  
E. Marquardt
Keyword(s):  
Operative Treatment ◽  
Limb Malformation ◽  
Congenital Limb

scholarly journals Split-hand/split-foot malformation (SHFM)

2014 ◽  
Vol 6 (1) ◽  
pp. 122-123
Author(s):  
Monojit Mondal ◽  
Kriti Sundar Rana ◽  
Nayan Banerji ◽  
Sayan Bose ◽  
Tanmoy Biswas ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Mode ◽  
Medical Sciences ◽  
Limb Malformation ◽  
Median Cleft ◽  
Congenital Limb ◽  
Mode Of Inheritance

 Split-hand/split-foot malformation (SHFM), also known as ectrodactyly or lobster claw hand is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays of the autopod. It may occur singly or in association with syndromes, former being mostly autosomal dominant but autosomal recessive variety is rare. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance DOI: http://dx.doi.org/10.3126/ajms.v6i1.10018   Asian Journal of Medical Sciences Vol.6(1) 2015 122-123  

scholarly journals Genome sequencing in families with congenital limb malformations

2021 ◽  
Author(s):  
Jonas Elsner ◽  
Martin A. Mensah ◽  
Manuel Holtgrewe ◽  
Jakob Hertzberg ◽  
Stefania Bigoni ◽  
...  
Keyword(s):  
Genome Sequencing ◽  
Disease Genes ◽  
Structural Variants ◽  
Clinical Genetic ◽  
Limb Malformation ◽  
Pathogenic Variants ◽  
Diagnostic Potential ◽  
Limb Malformations ◽  
Congenital Limb ◽  
Complex Structural

AbstractThe extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic variants. Here we aim to determine the diagnostic potential of GS as a comprehensive one-test-for-all strategy in a cohort of undiagnosed patients with congenital limb malformations. We collected 69 cases (64 trios, 1 duo, 5 singletons) with congenital limb malformations with no molecular diagnosis after standard clinical genetic testing and performed genome sequencing. We also developed a framework to identify potential noncoding pathogenic variants. We identified likely pathogenic/disease-associated variants in 12 cases (17.4%) including four in known disease genes, and one repeat expansion in HOXD13. In three unrelated cases with ectrodactyly, we identified likely pathogenic variants in UBA2, establishing it as a novel disease gene. In addition, we found two complex structural variants (3%). We also identified likely causative variants in three novel high confidence candidate genes. We were not able to identify any noncoding variants. GS is a powerful strategy to identify all types of genomic variants associated with congenital limb malformation, including repeat expansions and complex structural variants missed by standard diagnostic approaches. In this cohort, no causative noncoding SNVs could be identified.

A classification for congenital limb malformation

1983 ◽  
Vol 8 (5) ◽  
pp. 693-702 ◽  
Author(s):  
Alfred B. Swanson ◽  
Genevieve deGroot Swanson ◽  
Koichi Tada
Keyword(s):  
Limb Malformation ◽  
Congenital Limb

scholarly journals Relation of the Congenital Limb-malformation in the Japanese Monkeys and Organochlorin Pesticides

1988 ◽  
Vol 4 (2) ◽  
pp. 103-113 ◽  
Author(s):  
Mitsuo ITO ◽  
Kiyoshi OGAWA ◽  
Toshiaki SONOBE ◽  
Gen NAKAMINAMI ◽  
Norio ISHIDA ◽  
...  
Keyword(s):  
Limb Malformation ◽  
Japanese Monkeys ◽  
Congenital Limb

Maternal Behavior and Infant Congenital Limb Malformation in a Free-Ranging Group of Macaca fuscata on Awaji Island, Japan

2005 ◽  
Vol 26 (6) ◽  
pp. 1435-1457 ◽  
Author(s):  
Sarah E. Turner ◽  
Lisa Gould ◽  
David A. Duffus
Keyword(s):  
Maternal Behavior ◽  
Macaca Fuscata ◽  
Limb Malformation ◽  
Congenital Limb ◽  
Free Ranging
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