Literature DB >> 7554351

18p monosomy with GH-deficiency and empty sella: good response to GH-treatment.

E Schober1, S Scheibenreiter, H Frisch.   

Abstract

A patient with 18p monosomy and GH deficiency due to pituitary hypoplasia, who showed an excellent response to GH-treatment, is described. Patients with this syndrome should be considered for endocrine evaluation, as they can benefit from hormonal substitution.

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Year:  1995        PMID： 7554351     DOI： 10.1111/j.1399-0004.1995.tb04306.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

1.  Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Authors:  S W Horsley; S J Knight; J Nixon; S Huson; M Fitchett; R A Boone; D Hilton-Jones; J Flint; L Kearney
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

2.  Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy.

Authors:  Ayca Kocaaga; Sevgi Yimenicioglu
Journal:  Glob Med Genet       Date:  2022-02-25

3.  Familial deletion 18p syndrome: case report.

Authors:  Bruno Maranda; Nicole Lemieux; Emmanuelle Lemyre
Journal:  BMC Med Genet       Date:  2006-07-14       Impact factor: 2.103

4.  Empty sella syndrome in a male child with failure to thrive.

Authors:  Debasmita Rath; Ranjan Kumar Sahoo; Jasashree Choudhury; Dillip Kumar Dash; Anuspandana Mohapatra
Journal:  J Pediatr Neurosci       Date:  2015 Jan-Mar

5.  Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion.

Authors:  Edward J Bellfield; Jacqueline Chan; Sarah Durrin; Valerie Lindgren; Zohra Shad; Claudia Boucher-Berry
Journal:  Case Rep Endocrinol       Date:  2016-10-24

6.  18p Deletion Syndrome: Case Report with Clinical Consideration and Management.

Authors:  Megha Goyal; Mayuri Jain; Sachin Singhal; Kirty Nandimath
Journal:  Contemp Clin Dent       Date:  2017 Oct-Dec

7.  A case of 18p deletion syndrome after blepharoplasty.

Authors:  Li-Juan Xu; Lv-Xian Wu; Qing Yuan; Zhi-Gang Lv; Xue-Yan Jiang
Journal:  Int Med Case Rep J       Date:  2017-01-12

Review 8.  Monosomy 18p.

Authors:  Catherine Turleau
Journal:  Orphanet J Rare Dis       Date:  2008-02-19       Impact factor: 4.123
  8 in total

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