Literature DB >> 645658

The Coffin-Siris syndrome.

W W Tunnessen, J A McMillan, M B Levin.   

Abstract

We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. Feeding and respiratory problems are prominent features. The Dandy-Walker malformation was found at autopsy in our patient. This malformation was also present in the only other patient with this syndrome whose autopsy has been reported.

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Year:  1978        PMID: 645658     DOI: 10.1001/archpedi.1978.02120290065011

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  7 in total

Review 1.  Coffin-Siris syndrome.

Authors:  P Levy; M Baraitser
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

2.  The Coffin-Siris syndrome.

Authors:  Q H Qazi; L S Heckman; D Markouizos; R S Verma
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

Review 3.  The Coffin-Siris syndrome. A report of four cases and review of the literature.

Authors:  J Lucaya; J A Garcia-Conesa; J M Bosch-Banyeras; G Pons-Peradejordi
Journal:  Pediatr Radiol       Date:  1981

4.  Medulloblastoma in association with the Coffin-Siris syndrome.

Authors:  L Rogers; J Pattisapu; R R Smith; P Parker
Journal:  Childs Nerv Syst       Date:  1988-02       Impact factor: 1.475

5.  Successful difficult airway management of a child with Coffin-siris syndrome.

Authors:  Ahmet Selim Ozkan; Sedat Akbas; Mehmet Ridvan Yalin; Emine Ozdemir; Zeynep Koylu
Journal:  Clin Case Rep       Date:  2017-06-29

6.  Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development.

Authors:  J Ellegood; S P Petkova; J L Silverman; J P Lerch; A Kinman; L R Qiu; A Adhikari; A A Wade; D Fernandes; Z Lindenmaier; A Creighton; L M J Nutter; A S Nord
Journal:  Mol Autism       Date:  2021-03-23       Impact factor: 7.509

7.  Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

Authors:  Jun Zhu; Jun Qiu; Gregg Magrane; Malak Abedalthagafi; Andrea Zanko; Mahin Golabi; Farid F Chehab
Journal:  PLoS One       Date:  2012-12-27       Impact factor: 3.240

  7 in total

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