Literature DB >> 22470720

Cleidocranial dysplasia (CCD) causing respiratory distress syndrome in a newborn infant. A case report.

Kristina Imeen Ringe1, Eckart Schirg, Michael Galanski.   

Abstract

Cleidocranial dysplasia (CCD), also known as Scheuthauer Marie-Sainton Syndrome, is a rare autosomal dominant inherited disorder, characterized by general retardation in bone ossification, hypoplastic clavicles and various craniofacial and dental abnormalities. Early diagnosis of CCD can be difficult, because the majority of craniofacial abnormalities become obvious only during adolescence. We present a rare case of CCD with neonatal manifestation and would like to promote the awareness of this rare disorder and the importance of early diagnosis.

Entities:  

Keywords:  CCD; Cleidocranial dysplasia; Scheuthauer Marie-Sainton Syndrome; hypoplastic clavicle

Year:  2010        PMID: 22470720      PMCID: PMC3303383          DOI: 10.3941/jrcr.v4i4.396

Source DB:  PubMed          Journal:  J Radiol Case Rep        ISSN: 1943-0922


  8 in total

1.  Evidence for an autosomal recessive form of cleidocranial dysostosis.

Authors:  R M Goodman; R Tadmor; A Zaritsky; S A Becker
Journal:  Clin Genet       Date:  1975-07       Impact factor: 4.438

2.  Prenatal exclusion of cleidocranial dysplasia.

Authors:  Pietro Cavalli; Filippo M Santorelli; Massimo Bontardelli; Alessandra Tessa; Anna Bosi; Carlo Poggiani
Journal:  Prenat Diagn       Date:  2003-11       Impact factor: 3.050

3.  Cleidocranial dysplasia: diagnostic criteria and combined treatment.

Authors:  Zsuzsanna Suba; Gergely Balaton; Szabolcs Gyulai-Gaál; Peter Balaton; József Barabás; Ildikó Tarján
Journal:  J Craniofac Surg       Date:  2005-11       Impact factor: 1.046

4.  Early prenatal ultrasound diagnosis of cleidocranial dysplasia.

Authors:  P A Stewart; R Wallerstein; E Moran; M J Lee
Journal:  Ultrasound Obstet Gynecol       Date:  2000-02       Impact factor: 7.299

5.  A natural history of cleidocranial dysplasia.

Authors:  S C Cooper; C M Flaitz; D A Johnston; B Lee; J T Hecht
Journal:  Am J Med Genet       Date:  2001-11-15

6.  Cleidocranial dysostosis in infancy.

Authors:  K L Tan; L K Tan
Journal:  Pediatr Radiol       Date:  1981

Review 7.  Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency.

Authors:  E Soto; K Richani; L F Gonçalves; P Devers; J Espinoza; W Lee; M C Treadwell; R Romero
Journal:  Ultrasound Obstet Gynecol       Date:  2006-05       Impact factor: 7.299

8.  Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery. Report of two cases.

Authors:  Gulnur Tokuc; Perran Boran; Burak O Boran
Journal:  J Neurosurg       Date:  2006-04       Impact factor: 5.115

  8 in total
  1 in total

1.  Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report.

Authors:  Yumiko Nishio; Teruyuki Hiraki; Hiroko Taniguchi; Kazuo Ushijima
Journal:  JA Clin Rep       Date:  2018-01-05
  1 in total

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