Literature DB >> 170387

Macrocephaly in association with unusual cutaneous angiomatosis.

M J Stephan, B D Hall, D W Smith, M M Cohen.   

Abstract

Ten patients are presented who demonstrate a newly recognized association of macrocephaly with unusual angiomatosis and limb asymmetry in three somewhat similar cutaneous vascular disorders: Klippel-Trenaunay-Weber syndrome, the combination of Sturge-Weber anomaly with Klippel-Trenaunay-Weber syndrome, and cutis marmorata telangiectatica congenita. The etiology of the macrocephaly in patients with these conditions is unknown. The majority (seven of ten) of these children have no evidence of central nervous system dysfunction.

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Year:  1975        PMID： 170387     DOI： 10.1016/s0022-3476(75)80634-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  7 in total

1.  Diagnosing Friedreich's ataxia.

Authors:  N W Wood
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

2.  Growing interest in overgrowth.

Authors:  T Cole
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

3.  Klippel-Trenaunay-Weber syndrome: a case with cerebral and cerebellar hemihypertrophy.

Authors:  B Anlar; K Yalaz; C Erzen
Journal:  Neuroradiology       Date:  1988       Impact factor: 2.804

4.  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

5.  Spinal extradural meningeal cyst in klippel-trenaunay syndrome.

Authors:  Kyung-Chul Choi; Sung Tae Ahn; Yong Hawn Shin; Sang-Ho Lee
Journal:  J Korean Neurosurg Soc       Date:  2011-05-31

6.  An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis.

Authors:  Chang-Woo Lee; Du-Young Choi; Yeon-Geun Oh; Hyang-Suk Yoon; Jong-Duk Kim
Journal:  J Korean Med Sci       Date:  2005-12       Impact factor: 2.153

7.  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
  7 in total

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