Literature DB >> 3068987

Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?

E J Cesarino1, M Pinheiro, N Freire-Maia, M C Meira-Silva.   

Abstract

We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.

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Year:  1988        PMID： 3068987     DOI： 10.1002/ajmg.1320310207

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  Ablepharon macrostomia syndrome.

Authors:  N J Price; R E Pugh; P A Farndon; H E Willshaw
Journal:  Br J Ophthalmol       Date:  1991-05       Impact factor: 4.638

2.  Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

Authors:  J E Pellegrino; R E Schnur; L Boghosian-Sell; G Strathdee; J Overhauser; N B Spinner; T Stump; K Grace; E H Zackai
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  A case of Barber-Say syndrome in a male Japanese newborn.

Authors:  Kenichi Suga; Miki Shono; Aya Goji; Sato Matsuura; Miki Inoue; Masami Kawahito; Michiyo Kinoshita; Misa Takeda; Kazuhiro Mori
Journal:  Clin Case Rep       Date:  2014-09-04

4.  Barber-say syndrome: a confirmed case of TWIST2 gene mutation.

Authors:  Mulakkan David Yohannan; Jennifer Hilgeman; Katlin Allsbrook
Journal:  Clin Case Rep       Date:  2017-06-02

5.  General anesthesia of a Japanese infant with Barber-Say syndrome: a case report.

Authors:  Eisuke Hamaguchi; Yasuo M Tsutsumi; Katsuyoshi Kume; Yoko Sakai; Nami Kakuta; Yuta Uemura; Shinji Kawahito; Katsuya Tanaka
Journal:  JA Clin Rep       Date:  2016-06-02
  5 in total

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