Literature DB >> 1404301

18p- syndrome and hypopituitarism.

H G Artman1, C A Morris, A D Stock.   

Abstract

A patient is described with 18p- syndrome and hypopituitarism. This is the first patient with this syndrome who has been shown to benefit from growth hormone therapy. Patients with this syndrome who have growth deficiency should be considered for evaluation for hypopituitarism, if the quality of their lives would improve with an increase in stature.

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Year:  1992        PMID： 1404301      PMCID： PMC1016104          DOI： 10.1136/jmg.29.9.671

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Monosomy of a "G" autosome in a 22-year-old female.

Authors:  W G Cooksley; A Firouz-Abadi; D C Wallace
Journal:  Med J Aust       Date:  1973-07-28       Impact factor: 7.738

2.  Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18.

Authors:  J Leisti; S Leisti; J Perheentupa; E Savilahti; P Aula
Journal:  Arch Dis Child       Date:  1973-04       Impact factor: 3.791

3.  Autoimmune thyroiditis in a case of 18p- syndrome.

Authors:  P D Gluckman
Journal:  Aust Paediatr J       Date:  1977-06

4.  [Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].

Authors:  L Buffoni; A Tarateta; G Aicardi; M G Vianello; E Bonioli
Journal:  Minerva Pediatr       Date:  1976-04-07       Impact factor: 1.312

5.  Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome.

Authors:  S S Abusrewil; A McDermott; D C Savage
Journal:  Arch Dis Child       Date:  1988-09       Impact factor: 3.791
  5 in total
  4 in total

1.  Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.

Authors:  A Meloni; L Boccone; L Angius; S Loche; A M Falchi; A Cao
Journal:  Eur J Pediatr       Date:  1994-02       Impact factor: 3.183

2.  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

3.  A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.

Authors:  Mara Giordano; Valentina Muratore; Deepak Babu; Cristina Meazza; Mauro Bozzola
Journal:  Mol Cytogenet       Date:  2016-12-03       Impact factor: 2.009

4.  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
  4 in total

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