Literature DB >> 13900550

Orodigitofacial dysostosis--a new syndrome. A study of 22 cases.

R J GORLIN, J PSAUME.   

Abstract

Entities:  

Keywords:  CLEFT PALATE/complications; FACIAL BONES/abnormalities; HAND/abnormalities; MANDIBULOFACIAL DYSOSTOSIS; SKULL/abnormalities; TEETH/abnormalities; TONGUE/abnormalities

Mesh:

Year:  1962        PMID: 13900550     DOI: 10.1016/s0022-3476(62)80143-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  20 in total

1.  [Syndrome patients within the framework of the early orthodontic treatment of infants with cheilognathopalatoschisis].

Authors:  M Bacher; P Koppenburg; E Leidig; D Dausch-Neumann; N Schwenzer; H G Döring
Journal:  Fortschr Kieferorthop       Date:  1989-12

2.  Rare case of orofaciodigital syndrome type I.

Authors:  Abhishek Bahadur Singh; Manish Girhotra; Medha Goel; Shilpee Bhatia
Journal:  BMJ Case Rep       Date:  2013-02-14

3.  Lingual hamartoma in an infant: CT and MR imaging.

Authors:  A L Goold; B L Koch; J P Willging
Journal:  AJNR Am J Neuroradiol       Date:  2007-01       Impact factor: 3.825

4.  Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

Authors:  Shilpa Chetty-John; Katie Piwnica-Worms; Joy Bryant; Isa Bernardini; Roxanne E Fischer; Theo Heller; William A Gahl; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

5.  Oral facial-digital (OFD) syndrome type I.

Authors:  R M Joshi; B K Sangani; C P Rao; G S Hathi
Journal:  Indian J Pediatr       Date:  1985 Sep-Oct       Impact factor: 1.967

6.  Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Authors:  Izak J Bisschoff; Christine Zeschnigk; Denise Horn; Brigitte Wellek; Angelika Rieß; Maja Wessels; Patrick Willems; Peter Jensen; Andreas Busche; Jens Bekkebraten; Maya Chopra; Hanne Dahlgaard Hove; Christina Evers; Ketil Heimdal; Ann-Sophie Kaiser; Erdmut Kunstmann; Kristina Lagerstedt Robinson; Maja Linné; Patricia Martin; James McGrath; Winnie Pradel; Katrina E Prescott; Bernd Roesler; Gorazd Rudolf; Ulrike Siebers-Renelt; Nataliya Tyshchenko; Dagmar Wieczorek; Gerhard Wolff; William B Dobyns; Deborah J Morris-Rosendahl
Journal:  Hum Mutat       Date:  2012-10-17       Impact factor: 4.878

Review 7.  Dysmorphic disorders--an overview.

Authors:  D Donnai
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice.

Authors:  M H Kaufman; H H Chang; J P Shaw
Journal:  J Anat       Date:  1995-06       Impact factor: 2.610

9.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 10.  Emerging role of primary cilia as mechanosensors in osteocytes.

Authors:  An M Nguyen; Christopher R Jacobs
Journal:  Bone       Date:  2012-11-28       Impact factor: 4.398

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