Literature DB >> 7508316

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

R C Hennekam1, M J Van Schooneveld, H H Ardinger, M J Van Den Boogaard, D Friedburg, S Rudnik-Schoneborn, J H Seguin, K B Weatherstone, D Wittebol-Post, P Meinecke.   

Abstract

Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.

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Year:  1993        PMID: 7508316

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  4 in total

1.  ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.

Authors:  Bernadette C Holdener; Christopher J Percival; Richard C Grady; Daniel C Cameron; Steven J Berardinelli; Ao Zhang; Sanjiv Neupane; Megumi Takeuchi; Javier C Jimenez-Vega; Sardar M Z Uddin; David E Komatsu; Robert Honkanen; Johanne Dubail; Suneel S Apte; Takashi Sato; Hisashi Narimatsu; Steve A McClain; Robert S Haltiwanger
Journal:  Hum Mol Genet       Date:  2019-12-15       Impact factor: 6.150

2.  A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure.

Authors:  Osamu Motoyama; Hiroko Arai; Ryoko Harada; Kei Hasegawa; Kikuo Iitaka
Journal:  Clin Exp Nephrol       Date:  2010-04-28       Impact factor: 2.801

3.  Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling.

Authors:  Keiichiro Iwao; Masaru Inatani; Yoshihiro Matsumoto; Minako Ogata-Iwao; Yuji Takihara; Fumitoshi Irie; Yu Yamaguchi; Satoshi Okinami; Hidenobu Tanihara
Journal:  J Clin Invest       Date:  2009-06-08       Impact factor: 14.808

4.  Peters' anomaly.

Authors:  Robert W Sault; Jeffrey Sheridan
Journal:  Ophthalmol Eye Dis       Date:  2013-02-13
  4 in total

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