Literature DB >> 26059676

Peters anomaly in cri-du-chat syndrome.

William C Hope1, Jose A Cordovez2, Jenina E Capasso2, Kristin M Hammersmith3, Ralph C Eagle4, Joel Lall-Trail5, Alex V Levin6.   

Abstract

The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia.
Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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Year:  2015        PMID: 26059676     DOI: 10.1016/j.jaapos.2015.01.018

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  2 in total

1.  Gene-Environment Interactions Target Mitogen-activated Protein 3 Kinase 1 (MAP3K1) Signaling in Eyelid Morphogenesis.

Authors:  Maureen Mongan; Qinghang Meng; Jingjing Wang; Winston W-Y Kao; Alvaro Puga; Ying Xia
Journal:  J Biol Chem       Date:  2015-06-24       Impact factor: 5.157

2.  Children and adults affected by Cri du Chat syndrome: Care's recommendations.

Authors:  Maria Elena Liverani; Alice Spano; Cesare Danesino; Michela Malacarne; Simona Cavani; Marianna Spunton; Andrea Guala
Journal:  Pediatr Rep       Date:  2019-02-26
  2 in total

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