Literature DB >> 13851313

Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?

R J GORLIN, A P CHAUDHRY, M L MOSS.   

Abstract

Entities:  

Keywords:  DUCTUS ARTERIOSUS; EYE/abnormalities; HYPERTELORISM; TEETH/abnormalities; VULVA/abnormalities

Mesh：

Year:  1960        PMID： 13851313     DOI： 10.1016/s0022-3476(60)80315-0

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


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  10 in total

1.  [Clinical aspects, diagnosis and hemodynamics of Bota- llo's ductus arteriosus].

Authors:  A Schaede; M Tauchert; H H Hilger
Journal:  Arch Kreislaufforsch       Date:  1967-12

2.  Craniosynostosis and Craniofacial Anomalies.

Authors: 
Journal:  West J Med       Date:  1980-06

3.  Unknown syndrome: congenital heart disease, ptosis, hypodontia, and craniosynostosis.

Authors:  L Mehta; I Lewis; M A Patton
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

4.  Fontaine progeroid syndrome-A case report.

Authors:  Sinéad Lally; Nicola Walsh; Janna Kenny; Orla Franklin; Melanie Cotter; Sarah Richardson; Fiona McEligott; Alan Finan
Journal:  Clin Case Rep       Date:  2022-09-06

Review 5.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

Review 6.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07

7.  De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Authors:  Nadja Ehmke; Luitgard Graul-Neumann; Lukasz Smorag; Rainer Koenig; Lara Segebrecht; Pilar Magoulas; Fernando Scaglia; Esra Kilic; Anna F Hennig; Nicolai Adolphs; Namrata Saha; Beatrix Fauler; Vera M Kalscheuer; Friederike Hennig; Janine Altmüller; Christian Netzer; Holger Thiele; Peter Nürnberg; Gökhan Yigit; Marten Jäger; Jochen Hecht; Ulrike Krüger; Thorsten Mielke; Peter M Krawitz; Denise Horn; Markus Schuelke; Stefan Mundlos; Carlos A Bacino; Penelope E Bonnen; Bernd Wollnik; Björn Fischer-Zirnsak; Uwe Kornak
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025

Review 8.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

9.  A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

Authors:  Jaehui Ryu; Jung Min Ko; Choong-Ho Shin
Journal:  BMC Med Genet       Date:  2019-11-27       Impact factor: 2.103

10.  Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?

Authors:  Juno Legué; Jules H M François; Carla S P van Rijswijk; Thomas J van Brakel
Journal:  Eur J Cardiothorac Surg       Date:  2020-09-01       Impact factor: 4.191
  10 in total

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