Literature DB >> 1557308

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.

D P Bick1, D F Schorderet, P A Price, L Campbell, R W Huff, L J Shapiro, C M Moore.   

Abstract

We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.

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Year:  1992        PMID： 1557308     DOI： 10.1002/pd.1970120104

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  7 in total

Review 1.  Recognition and diagnosis of neuro-ichthyotic syndromes.

Authors:  William B Rizzo; Sabrina Malone Jenkens; Philip Boucher
Journal:  Semin Neurol       Date:  2012-03-15       Impact factor: 3.420

2.  Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

Authors:  Nelly Pitteloud; James S Acierno; Astrid Meysing; Anna V Eliseenkova; Jinghong Ma; Omar A Ibrahimi; Daniel L Metzger; Frances J Hayes; Andrew A Dwyer; Virginia A Hughes; Maria Yialamas; Janet E Hall; Ellen Grant; Moosa Mohammadi; William F Crowley
Journal:  Proc Natl Acad Sci U S A       Date:  2006-04-10       Impact factor: 11.205

3.  Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.

Authors:  Maria I Stamou; Harrison Brand; Mei Wang; Isaac Wong; Margaret F Lippincott; Lacey Plummer; William F Crowley; Michael Talkowski; Stephanie Seminara; Ravikumar Balasubramanian
Journal:  J Clin Endocrinol Metab       Date:  2022-07-14       Impact factor: 6.134

4.  Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.

Authors:  Julie Sarfati; Claire Bouvattier; Hélène Bry-Gauillard; Alejandra Cartes; Jérôme Bouligand; Jacques Young
Journal:  Orphanet J Rare Dis       Date:  2015-06-09       Impact factor: 4.123

5.  Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.

Authors:  Guannan He; Yan Yin; Jing Zhao; Xueyan Wang; Jiaxiang Yang; Xi Chen; Li Ding; Yan Bai
Journal:  BMC Pediatr       Date:  2019-07-23       Impact factor: 2.125

6.  The Novel Actions of the Metabolite GnRH-(1-5) are Mediated by a G Protein-Coupled Receptor.

Authors:  Darwin Omar Larco; Nina Nashat Semsarzadeh; Madelaine Cho-Clark; Shaila K Mani; T John Wu
Journal:  Front Endocrinol (Lausanne)       Date:  2013-07-08       Impact factor: 5.555

Review 7.  Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption.

Authors:  Yujun Liu; Xu Zhi
Journal:  Reprod Sci       Date:  2021-07-06       Impact factor: 2.924
  7 in total

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