Literature DB >> 14564159

Siblings with glaucoma, mental retardation and short stature.

Ali AlKaissi1, Aza Hammou, Maher Ben Ghachem, Mohamed Nabil Nacib, Farid Ben Chehida, Hager Karoui, Michael Baraitser.   

Abstract

We report a sibling pair, whose parents are distantly related, with congenital glaucoma and mental retardation. There are similarities to ter Haar syndrome, but severe mental retardation has not been described previously in that condition.

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Year:  2003        PMID： 14564159     DOI： 10.1097/01.mcd.0000077564.66911.0a

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


  2 in total

1.  Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome.

Authors:  Zeynep Aktas; Emine Esra Karaca; Nurcan Dogan; Tugba Çakmak; Metin Unlu; Levent Tok; Murat Hasanreisoglu
Journal:  Int Ophthalmol       Date:  2013-05-25       Impact factor: 2.031

2.  Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

Authors:  Charlotte L Bendon; Aimée L Fenwick; Jane A Hurst; Gudrun Nürnberg; Peter Nürnberg; Steven A Wall; Andrew O M Wilkie; David Johnson
Journal:  BMC Med Genet       Date:  2012-11-09       Impact factor: 2.103
  2 in total

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