Literature DB >> 1663704

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

A Spaepen1, C Schrander-Stumpel, J P Fryns, C de Die-Smulders, M Borghgraef, H Van den Berghe.   

Abstract

We describe 3 young children with Hallermann-Streiff syndrome, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete syndactyly of fingers IV and V. The latter case represents overlap of the Hallermann-Streiff syndrome and oculodentodigital dysplasia. "Dwarfism" as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable.

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Year:  1991        PMID: 1663704     DOI: 10.1002/ajmg.1320410428

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


  4 in total

1.  Hallermann Streiff syndrome: 'Bird faced' but not 'bird brained'.

Authors:  Abhishek Mallick; R K Singh; R K Thapar
Journal:  Med J Armed Forces India       Date:  2017-03-22

2.  Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Authors:  F Kortüm; M Chyrek; S Fuchs; B Albrecht; G Gillessen-Kaesbach; U Mütze; E Seemanova; S Tinschert; D Wieczorek; G Rosenberger; K Kutsche
Journal:  Mol Syndromol       Date:  2011-11-12

3.  Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.

Authors:  Xueqing Li; Xueshan Xiao; Shiqiang Li; Jiamin Ouyang; Wenmin Sun; Xing Liu; Qingjiong Zhang
Journal:  Mol Vis       Date:  2021-05-13       Impact factor: 2.367

4.  Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Authors:  Virang Kumar; Natario L Couser; Arti Pandya
Journal:  Case Rep Ophthalmol Med       Date:  2020-04-04
  4 in total

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