Literature DB >> 7924855

Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities.

B Stanković1, V Krstić, B Stankov, L Jojić, M Nagulić, G Artiko.   

Abstract

A family with 15 individuals in four successive generations affected by Jackson-Weiss syndrome, craniosynostosis with Crouzon-variant-like phenotype and feet's abnormalities, is presented. An autosomal dominant inheritance pattern with complete penetrance, variable expressivity, and wide intrafamilial variation, more among, less within the same generation, was observed. Concerning the frequency and severity of complications, the evolution of craniofacial deformities seems to parallel those described with Crouzon syndrome, suggesting the similar evaluation and management.

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Year:  1994        PMID: 7924855     DOI: 10.1007/bf01664936

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN: 0012-4486            Impact factor:   2.379


  7 in total

Review 1.  Congenital craniofacial anomalies of ophthalmic importance.

Authors:  P D Fries; J A Katowitz
Journal:  Surv Ophthalmol       Date:  1990 Sep-Oct       Impact factor: 6.048

2.  Crouzon syndrome: prenatal ultrasound diagnosis by binocular diameters.

Authors:  M V Leo; L Suslak; V L Ganesh; A Adhate; J J Apuzzio
Journal:  Obstet Gynecol       Date:  1991-11       Impact factor: 7.661

3.  Exophthalmus--prenatal ultrasonic features for diagnosis of Crouzon syndrome.

Authors:  Y Menashe; G Ben Baruch; O Rabinovitch; Y Shalev; M B Katzenlson; E Shalev
Journal:  Prenat Diagn       Date:  1989-11       Impact factor: 3.050

4.  Germinal mosaicism in Crouzon syndrome. A family with three affected siblings of normal parents.

Authors:  C Navarrete; R Peña; R Peñaloza; F Salamanca
Journal:  Clin Genet       Date:  1991-07       Impact factor: 4.438

5.  Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

Authors:  C E Jackson; L Weiss; W A Reynolds; T F Forman; J A Peterson
Journal:  J Pediatr       Date:  1976-06       Impact factor: 4.406

6.  Crouzon's disease (craniofacial dysostosis). Modern diagnosis and treatment.

Authors:  J Kushner; E Alexander; C H Davis; D L Kelly; A H Kushner
Journal:  J Neurosurg       Date:  1972-10       Impact factor: 5.115

7.  Visual loss in patients with craniofacial synostosis.

Authors:  R W Hertle; G E Quinn; N Minguini; J A Katowitz
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1991 Nov-Dec       Impact factor: 1.402

  7 in total

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