Literature DB >> 830894

A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.

L S Levin, J C Perrin, L Ose, J P Dorst, J D Miller, V A McKusick.   

Abstract

Five children are reported with dolichocephaly (with sagittal suture synostosis in three), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, short span, brachydactyly and brachypodia, and narrow thoraces. Radiologic abnormalities were noted chiefly in the skull, chest, and limbs. Intelligence was normal. The pattern of inheritance is compatible with an autosomal recessive trait.

Entities:  

Mesh:

Year:  1977        PMID: 830894     DOI: 10.1016/s0022-3476(77)80764-6

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


  20 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Cranioectodermal dysplasia in sibs.

Authors:  G D Lang; I D Young
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia.

Authors:  T Eke; G Woodruff; I D Young
Journal:  Br J Ophthalmol       Date:  1996-05       Impact factor: 4.638

Review 4.  Role of Primary Cilia in Odontogenesis.

Authors:  M Hampl; P Cela; H L Szabo-Rogers; M Kunova Bosakova; H Dosedelova; P Krejci; M Buchtova
Journal:  J Dent Res       Date:  2017-06-12       Impact factor: 6.116

5.  Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Authors:  Christian Gilissen; Heleen H Arts; Alexander Hoischen; Liesbeth Spruijt; Dorus A Mans; Peer Arts; Bart van Lier; Marloes Steehouwer; Jeroen van Reeuwijk; Sarina G Kant; Ronald Roepman; Nine V A M Knoers; Joris A Veltman; Han G Brunner
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

6.  A role for primary cilia in aortic valve development and disease.

Authors:  Katelynn A Toomer; Diana Fulmer; Lilong Guo; Alex Drohan; Neal Peterson; Paige Swanson; Brittany Brooks; Rupak Mukherjee; Simon Body; Joshua H Lipschutz; Andy Wessels; Russell A Norris
Journal:  Dev Dyn       Date:  2017-06-28       Impact factor: 3.780

Review 7.  Cranioectodermal dysplasia (Sensenbrenner's syndrome).

Authors:  I D Young
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

8.  Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.

Authors:  Katsuyuki Obikane; Taiji Nakashima; Yoshihiko Watarai; Ken Morita; Kazutoshi Cho; Hidefumi Tonoki; Michio Nagata; Satoshi Sasaki
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714

Review 9.  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

Review 10.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

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