Literature DB >> 7508317

Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?

E M Thompson1, R M Winter, M Baraitser.   

Abstract

Manifestations of Peters'-Plus syndrome include Peters' anomaly, short stature, small hands, mental retardation, abnormal ears and cleft lip and palate. 'Kivlin' syndrome is a similar disorder involving Peters' anomaly, short stature, short limbs, delayed development, facial clefting in some, ear abnormalities and a characteristic facial appearance attributable mainly to a 'cupid's bow' shape of the upper lip. Two new adult cases of Peters'-Plus are described, and follow-up information on a previously reported case of 'Kivlin' syndrome is presented. The two syndromes are reviewed and it is concluded that they are the same autosomal recessively inherited disorder, which we suggest should be called Peters'-Plus syndrome.

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Year:  1993        PMID: 7508317

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


  2 in total

1.  Mutation analysis of B3GALTL in Peters Plus syndrome.

Authors:  Linda M Reis; Rebecca C Tyler; Omar Abdul-Rahman; Pamela Trapane; Robert Wallerstein; Diane Broome; Jodi Hoffman; Aneal Khan; Christina Paradiso; Nitin Ron; Amanda Bergner; Elena V Semina
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

2.  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 in total

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