Literature DB >> 21271646

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.

Melissa T Carter1, Michael T Geraghty, Laura De La Cruz, R Ross Reichard, Luigi Boccuto, Charles E Schwartz, Carol L Clericuzio.   

Abstract

We present two unrelated male infants with strikingly similar clinical features which have not previously been reported together. The most unusual feature was the presence of multiple small capillary malformations (port-wine stains) on the skin from birth. Both infants had intractable seizures, microcephaly with progressive cortical atrophy, severe developmental delay, dysmorphic facial features, and hypoplasia of the distal phalanges. To our knowledge, no other person with this unique constellation of features has been described.
Copyright © 2011 Wiley-Liss, Inc.

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Year:  2011        PMID: 21271646     DOI: 10.1002/ajmg.a.33841

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  6 in total

1.  The microcephaly-capillary malformation syndrome.

Authors:  Ghayda M Mirzaa; Alex R Paciorkowski; Christopher D Smyser; Marcia C Willing; Anne C Lind; William B Dobyns
Journal:  Am J Med Genet A       Date:  2011-08-03       Impact factor: 2.802

Review 2.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

3.  A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

Authors:  Ikumi Hori; Fuyuki Miya; Yutaka Negishi; Ayako Hattori; Naoki Ando; Keith A Boroevich; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh
Journal:  J Hum Genet       Date:  2018-06-15       Impact factor: 3.172

4.  Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

Authors:  Laura M McDonell; Ghayda M Mirzaa; Diana Alcantara; Jeremy Schwartzentruber; Melissa T Carter; Leo J Lee; Carol L Clericuzio; John M Graham; Deborah J Morris-Rosendahl; Tilman Polster; Gyula Acsadi; Sharron Townshend; Simon Williams; Anne Halbert; Bertrand Isidor; Albert David; Christopher D Smyser; Alex R Paciorkowski; Marcia Willing; John Woulfe; Soma Das; Chandree L Beaulieu; Janet Marcadier; Michael T Geraghty; Brendan J Frey; Jacek Majewski; Dennis E Bulman; William B Dobyns; Mark O'Driscoll; Kym M Boycott
Journal:  Nat Genet       Date:  2013-03-31       Impact factor: 38.330

5.  Novel caries loci in children and adults implicated by genome-wide analysis of families.

Authors:  Manika Govil; Nandita Mukhopadhyay; Daniel E Weeks; Eleanor Feingold; John R Shaffer; Steven M Levy; Alexandre R Vieira; Rebecca L Slayton; Daniel W McNeil; Robert J Weyant; Richard J Crout; Mary L Marazita
Journal:  BMC Oral Health       Date:  2018-06-01       Impact factor: 2.757

Review 6.  Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.

Authors:  Fangrui Wu; Ying Dai; Juan Wang; Min Cheng; Yanqin Wang; Xiujuan Li; Ping Yuan; Shuang Liao; Li Jiang; Jin Chen; Lisi Yan; Min Zhong
Journal:  Mol Med Rep       Date:  2019-10-17       Impact factor: 2.952

  6 in total

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