Literature DB >> 6638075

Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy.

P J Dahlberg, W Z Borer, K L Newcomer, W R Yutuc.   

Abstract

Two brothers were found to have an unusual congenital syndrome of lymphedema, pulmonary lymphagiectasia, hypoparthyroidism, hereditary nephropathy, prolapsing mitral valve, and other somatic abnormalities.

Entities:  

Mesh：

Year:  1983        PMID： 6638075     DOI： 10.1002/ajmg.1320160115

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Defective growth hormone secretion and hypogonadism in the new syndrome of congenital hypoparathyroidism, growth failure and dysmorphic features.

Authors:  A T Soliman; A Darwish; I alSalmi; M Asfour
Journal:  Indian J Pediatr       Date:  1996 Sep-Oct       Impact factor: 1.967

Review 2.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

3.  A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

Authors:  S A Sanjad; N A Sakati; Y K Abu-Osba; R Kaddoura; R D Milner
Journal:  Arch Dis Child       Date:  1991-02       Impact factor: 3.791

4.  Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Authors:  N J Shaw; D Haigh; G T Lealmann; G Karbani; J T Brocklebank; M J Dillon
Journal:  Arch Dis Child       Date:  1991-10       Impact factor: 3.791

5.  Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome.

Authors:  J Mücke; W Hoepffner; G Scheerschmidt; H Gornig; K Beyreiss
Journal:  Eur J Pediatr       Date:  1986-08       Impact factor: 3.183

6.  The swollen leg and primary lymphoedema.

Authors:  N B Wright; H M Carty
Journal:  Arch Dis Child       Date:  1994-07       Impact factor: 3.791

Review 7.  Ocular lymphatics: state-of-the-art review.

Authors:  L Chen
Journal:  Lymphology       Date:  2009-06       Impact factor: 1.286
  7 in total

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