Literature DB >> 8291518

Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome.

A Sommer1.   

Abstract

Gastroesophageal reflux is a common occurrence in infancy. The most severe complications of reflux include torticollis, opisthotonus, and paroxysmal dystonic posture (known as the Sandifer complex). We examined 17 patients now ranging in age from 9 months to 19 years (mean age 11 years) with the Brachmann-de Lange syndrome for evidence of gastroesophageal reflux and found that 13 had not only reflux, but also posturing and behavior consistent with the Sandifer complex. We propose that early recognition of gastroesophageal reflux in these patients may prevent the full picture of the Sandifer complex and allow for medical treatment rather than surgical intervention.

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Year:  1993        PMID: 8291518     DOI: 10.1002/ajmg.1320470719

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

Authors:  Juan Pié; María Concepción Gil-Rodríguez; Milagros Ciero; Eduardo López-Viñas; María Pilar Ribate; María Arnedo; Matthew A Deardorff; Beatriz Puisac; Jesús Legarreta; Juan Carlos de Karam; Encarnación Rubio; Inés Bueno; Antonio Baldellou; M Teresa Calvo; Nuria Casals; José Luis Olivares; Ana Losada; Fausto G Hegardt; Ian D Krantz; Paulino Gómez-Puertas; Feliciano J Ramos
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

Review 2.  Natural history of aging in Cornelia de Lange syndrome.

Authors:  Antonie D Kline; Marco Grados; Paul Sponseller; Howard P Levy; Natalie Blagowidow; Christianne Schoedel; Joni Rampolla; Douglas K Clemens; Ian Krantz; Amy Kimball; Carmen Pichard; David Tuchman
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-08-15       Impact factor: 3.908

Review 3.  Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.

Authors:  Irina Mindlina
Journal:  Eur J Pediatr       Date:  2020-01-11       Impact factor: 3.183

4.  Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.

Authors:  Indar K Sharawat; Lesa Dawman
Journal:  J Pediatr Neurosci       Date:  2018 Jul-Sep

Review 5.  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Authors:  Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam
Journal:  Nat Rev Genet       Date:  2018-10       Impact factor: 53.242

  5 in total

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