Literature DB >> 3774390

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother.

G Currarino, J M Friedman.   

Abstract

A boy is described with severe hyperostosis of the cranium and facial bones, and many other abnormalities including macrocephaly, abnormal facies, cleft palate, conductive hearing loss, speech defect, dental and digital anomalies, delayed skeletal development, short fibulas, short stature of postnatal onset, cervical kyphosis, and progressive lumbar lordosis. His mother exhibited craniofacial sclerosis, similar dental defects, and mild osteopathia striata without other abnormalities. This family may represent a previously undescribed inherited syndrome with cranial sclerosis.

Entities:  

Mesh:

Year:  1986        PMID: 3774390     DOI: 10.1007/bf02387953

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  11 in total

1.  The oto-palato-digital (OPD) syndrome in females.

Authors:  R J Gorlin; A K Poznanski; I Hendon
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1973-02

2.  Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females.

Authors:  J C Gall; A M Stern; A K Poznanski; S M Garn; E D Weinstein; J R Hayward
Journal:  Am J Hum Genet       Date:  1972-01       Impact factor: 11.025

3.  Variable expression in otopalatodigital syndrome; cleft palate in female.

Authors:  C F Salinas; R J Jorgenson; R L Lorenzo
Journal:  Birth Defects Orig Artic Ser       Date:  1979

4.  Familial osteopathia striata with cranial condensation.

Authors:  H Cortina; A Vallcanera; J Vidal
Journal:  Pediatr Radiol       Date:  1981

5.  Osseous changes of osteopathia striata associated with cranial sclerosis. An autosomal dominant entity.

Authors:  P A Schnyder
Journal:  Skeletal Radiol       Date:  1980-02       Impact factor: 2.199

6.  Osteopathia striata with sclerosis and thickening of the skull.

Authors:  M R Paling; I Hyde; N R Dennis
Journal:  Br J Radiol       Date:  1981-04       Impact factor: 3.039

7.  The roentgenographic features of the oto-palato-digital (OPD) syndrome.

Authors:  L O Langer
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1967-05

8.  Osteopathia striata with cranial sclerosis. An autosomal dominant entity.

Authors:  F T Horan; P H Beighton
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

9.  Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

Authors:  R M Winter; H B Meire; N Mitchell
Journal:  Clin Genet       Date:  1980-12       Impact factor: 4.438

10.  Osteopathia striata with cranial sclerosis. Report of a case and review of the literature.

Authors:  J De Keyser; M Bruyland; J De Greve; J Leemans; R Potvliege; R Six; G Ebinger
Journal:  Clin Neurol Neurosurg       Date:  1983       Impact factor: 1.876

View more
  3 in total

Review 1.  Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy.

Authors:  L Kornreich; M Grunebaum; N Ziv; A Shuper; M Mimouni
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183

Review 2.  Osteopathia striata with cranial sclerosis.

Authors:  B B Gay; L J Elsas; J B Wyly; M Pasquali
Journal:  Pediatr Radiol       Date:  1994

Review 3.  WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.

Authors:  Anna Maria Zicari; Luigi Tarani; Daniela Perotti; Laura Papetti; Francesco Nicita; Natascia Liberati; Alberto Spalice; Guglielmo Salvatori; Federica Guaraldi; Marzia Duse
Journal:  Ital J Pediatr       Date:  2012-06-20       Impact factor: 2.638

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.