Literature DB >> 23754335

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Daniel T Swarr1, Nahla Khalek, James Treat, Margaret A Horton, Ghayda M Mirzaa, Jean-Baptiste Riviere, William B Dobyns, Elaine H Zackai.   

Abstract

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Year:  2013        PMID： 23754335      PMCID： PMC3962827          DOI： 10.1002/pd.4178

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  8 in total

1.  Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

Authors:  Víctor Martínez-Glez; Valeria Romanelli; María A Mori; Ricardo Gracia; Mabel Segovia; Antonio González-Meneses; Juan C López-Gutierrez; Esther Gean; Loreto Martorell; Pablo Lapunzina
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

2.  Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.

Authors:  S Yano; Y Watanabe
Journal:  Am J Med Genet       Date:  2001-08-01

3.  Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature.

Authors:  Jesus E Dueñas-Arias; Eliakym Arámbula-Meraz; Luis O Frías-Castro; Rosalio Ramos-Payán; Jose A Quibrera-Matienzo; Fred Luque-Ortega; E Maribel Aguilar-Medina
Journal:  J Med Case Rep       Date:  2009-09-08

4.  Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

Authors:  J Clayton-Smith; B Kerr; H Brunner; L Tranebjaerg; A Magee; R C Hennekam; R F Mueller; L Brueton; M Super; J Steen-Johnsen; D Donnai
Journal:  Clin Dysmorphol       Date:  1997-10       Impact factor: 0.816

5.  Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Authors:  Ghayda M Mirzaa; Robert L Conway; Karen W Gripp; Tally Lerman-Sagie; Dawn H Siegel; Linda S deVries; Dorit Lev; Nancy Kramer; Elizabeth Hopkins; John M Graham; William B Dobyns
Journal:  Am J Med Genet A       Date:  2012-01-06       Impact factor: 2.802

Review 6.  Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.

Authors:  Pablo Lapunzina; Alba Gairí; Alicia Delicado; M Angeles Mori; M Luisa de Torres; Anton Goma; Marcelo Navia; Isidora López Pajares
Journal:  Am J Med Genet A       Date:  2004-09-15       Impact factor: 2.802

7.  Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Authors:  Fabienne Giuliano; Albert David; Patrick Edery; Sabine Sigaudy; Dominique Bonneau; Valérie Cormier-Daire; Nicole Philip
Journal:  Am J Med Genet A       Date:  2004-04-01       Impact factor: 2.802

8.  De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Authors:  Jean-Baptiste Rivière; Ghayda M Mirzaa; Brian J O'Roak; Margaret Beddaoui; Diana Alcantara; Robert L Conway; Judith St-Onge; Jeremy A Schwartzentruber; Karen W Gripp; Sarah M Nikkel; Thea Worthylake; Christopher T Sullivan; Thomas R Ward; Hailly E Butler; Nancy A Kramer; Beate Albrecht; Christine M Armour; Linlea Armstrong; Oana Caluseriu; Cheryl Cytrynbaum; Beth A Drolet; A Micheil Innes; Julie L Lauzon; Angela E Lin; Grazia M S Mancini; Wendy S Meschino; James D Reggin; Anand K Saggar; Tally Lerman-Sagie; Gökhan Uyanik; Rosanna Weksberg; Birgit Zirn; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Jay Shendure; John M Graham; Kym M Boycott; William B Dobyns
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330
  8 in total
  4 in total

1.  Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.

Authors:  Lisa T Emrick; Lauren Murphy; Alireza A Shamshirsaz; Rodrigo Ruano; Christopher I Cassady; Liu Liu; Fengqi Chang; V Reid Sutton; Marilyn Li; Ignatia B Van den Veyver
Journal:  Am J Med Genet A       Date:  2014-07-14       Impact factor: 2.802

2.  Nonimmune hydrops fetalis: identifying the underlying genetic etiology.

Authors:  Teresa N Sparks; Kao Thao; Billie R Lianoglou; Nina M Boe; Kari G Bruce; Ilina Datkhaeva; Nancy T Field; Victoria M Fratto; Jennifer Jolley; Louise C Laurent; Anne H Mardy; Aisling M Murphy; Emily Ngan; Naseem Rangwala; Catherine A M Rottkamp; Lisa Wilson; Erica Wu; Cherry C Uy; Priscila Valdez Lopez; Mary E Norton
Journal:  Genet Med       Date:  2018-11-09       Impact factor: 8.822

3.  PIK3CA-related overgrowth with an uncommon phenotype: case report.

Authors:  Roberta Rotunno; Andrea Diociaiuti; Elisa Pisaneschi; Claudia Carnevale; Marialisa Dentici; May El Hachem
Journal:  Ital J Pediatr       Date:  2022-05-12       Impact factor: 3.288

4.  PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Authors:  Ghayda Mirzaa; Andrew E Timms; Valerio Conti; Evan August Boyle; Katta M Girisha; Beth Martin; Martin Kircher; Carissa Olds; Jane Juusola; Sarah Collins; Kaylee Park; Melissa Carter; Ian Glass; Inge Krägeloh-Mann; David Chitayat; Aditi Shah Parikh; Rachael Bradshaw; Erin Torti; Stephen Braddock; Leah Burke; Sondhya Ghedia; Mark Stephan; Fiona Stewart; Chitra Prasad; Melanie Napier; Sulagna Saitta; Rachel Straussberg; Michael Gabbett; Bridget C O'Connor; Catherine E Keegan; Lim Jiin Yin; Angeline Hwei Meeng Lai; Nicole Martin; Margaret McKinnon; Marie-Claude Addor; Luigi Boccuto; Charles E Schwartz; Agustina Lanoel; Robert L Conway; Koenraad Devriendt; Katrina Tatton-Brown; Mary Ella Pierpont; Michael Painter; Lisa Worgan; James Reggin; Raoul Hennekam; Karen Tsuchiya; Colin C Pritchard; Mariana Aracena; Karen W Gripp; Maria Cordisco; Hilde Van Esch; Livia Garavelli; Cynthia Curry; Anne Goriely; Hulya Kayserilli; Jay Shendure; John Graham; Renzo Guerrini; William B Dobyns
Journal:  JCI Insight       Date:  2016-06-16
  4 in total

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