Literature DB >> 2133981

Mental retardation syndrome with renal concentration deficiency and intracerebral calcification.

O Schofer1, R Beetz, J Bohl, A Bornemann, J Oepen, J Spranger.   

Abstract

Two siblings are reported with a unique association of nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism and peculiar facial appearance. The disorder is to be differentiated from similar disorders, notably the Cockayne syndrome.

Entities:  

Mesh：

Year:  1990        PMID： 2133981     DOI： 10.1007/bf01959397

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  19 in total

1.  Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.

Authors:  T P KEARNS; G P SAYRE
Journal:  AMA Arch Ophthalmol       Date:  1958-08

2.  Dwarfism with retinal atrophy and deafness.

Authors:  E A COCKAYNE
Journal:  Arch Dis Child       Date:  1946-03       Impact factor: 3.791

3.  [Cockayne's syndrome].

Authors:  K D Tympner; F Eichin; H Pendel
Journal:  Z Kinderheilkd       Date:  1968

4.  Cockayne syndrome.

Authors:  E D Levinson; A W Zimmerman; M L Grunnet; R A Lewis; T J Spackman
Journal:  J Comput Assist Tomogr       Date:  1982-12       Impact factor: 1.826

5.  The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). Differentiation from other syndromes associated with short metacarpals, metatarsals, and phalanges.

Authors:  H L Steinbach; D A Young
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-05

Review 6.  Cockayne syndrome: unusual neuropathological findings and review of the literature.

Authors:  D Soffer; H W Grotsky; I Rapin; K Suzuki
Journal:  Ann Neurol       Date:  1979-10       Impact factor: 10.422

7.  Intracranial calcification in paediatric computed tomography.

Authors:  B Kendall; N Cavanagh
Journal:  Neuroradiology       Date:  1986       Impact factor: 2.804

8.  Calcification of the basal ganglia following carbon monoxide poisoning.

Authors:  F Illum
Journal:  Neuroradiology       Date:  1980       Impact factor: 2.804

9.  Computer assisted tomography in methotrexate encephalopathy.

Authors:  N Peylan-Ramu; D G Poplack; C L Blei; J R Herdt; M Vermess; G Di Chiro
Journal:  J Comput Assist Tomogr       Date:  1977-04       Impact factor: 1.826

10.  Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings.

Authors:  R W Leech; R A Brumback; R H Miller; F Otsuka; R E Tarone; J H Robbins
Journal:  J Neuropathol Exp Neurol       Date:  1985-09       Impact factor: 3.685
View more
  3 in total

1.  Intracranial calcifications and nephrogenic diabetes insipidus.

Authors:  M Di Rocco; P Picco; P Gandullia; C Borrone
Journal:  Eur J Pediatr       Date:  1991-06       Impact factor: 3.183

2.  Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride.

Authors:  V Kirchlechner; D Y Koller; R Seidl; F Waldhauser
Journal:  Arch Dis Child       Date:  1999-06       Impact factor: 3.791

3.  Intracranial calcification in siblings with nephrogenic diabetes insipidus: CT and MRI.

Authors:  J Tohyama; M Inagaki; T Koeda; K Ohno; K Takeshita
Journal:  Neuroradiology       Date:  1993       Impact factor: 2.804
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.