Literature DB >> 7815422

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

G B Schaefer1, A L Rosenbloom, J Guevara-Aguirre, E A Campbell, F Ullrich, K Patil, J L Frias.   

Abstract

Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency.

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Year:  1994        PMID： 7815422      PMCID： PMC1050027          DOI： 10.1136/jmg.31.8.635

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


  28 in total

1.  Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.

Authors:  P J Godowski; D W Leung; L R Meacham; J P Galgani; R Hellmiss; R Keret; P S Rotwein; J S Parks; Z Laron; W I Wood
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

2.  Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia.

Authors:  S S Saksena; D Bixler
Journal:  Am J Med Genet       Date:  1990-01

Review 3.  New methods for quantitative and qualitative facial studies: an overview.

Authors:  I T Thomas; R J Hintz; J L Frias
Journal:  J Craniofac Genet Dev Biol       Date:  1989

4.  The developing role of anthropologists in medical genetics: anthropometric assessment of the Prader-Labhart-Willi syndrome as an illustration.

Authors:  F J Meaney; M G Butler
Journal:  Med Anthropol       Date:  1989-04

5.  Anthropometrics and art in the aesthetics of women's faces.

Authors:  L G Farkas; J C Kolar
Journal:  Clin Plast Surg       Date:  1987-10       Impact factor: 2.017

Review 6.  Facial morphology as determined by anthropometry: keeping it simple.

Authors:  R E Ward
Journal:  J Craniofac Genet Dev Biol       Date:  1989

7.  Anthropometric comparison of mentally retarded males with and without the fragile X syndrome.

Authors:  M G Butler; G A Allen; J L Haynes; D N Singh; M S Watson; W R Breg
Journal:  Am J Med Genet       Date:  1991 Feb-Mar

8.  Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.

Authors:  M A Berg; J Guevara-Aguirre; A L Rosenbloom; R G Rosenfeld; U Francke
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

9.  Analysis of craniofacial growth in Crouzon syndrome using landmark data.

Authors:  J T Richtsmeier; S Lele
Journal:  J Craniofac Genet Dev Biol       Date:  1990

10.  A method for three-dimensional image reformation for quantitative cephalometric analysis.

Authors:  S R Matteson; W Bechtold; C Phillips; E V Staab
Journal:  J Oral Maxillofac Surg       Date:  1989-10       Impact factor: 1.895
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  5 in total

1.  Laron's syndrome in two siblings.

Authors:  Partha Pratim Chakraborty; Asish Kumar Basu; Sanjay Kumar Mandal; Dipanjan Bandyopadhyay
Journal:  Indian J Pediatr       Date:  2007-09       Impact factor: 1.967

2.  Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo.

Authors:  Stephanie C Colvin; Raleigh E Malik; Aaron D Showalter; Kyle W Sloop; Simon J Rhodes
Journal:  Proc Natl Acad Sci U S A       Date:  2010-12-13       Impact factor: 11.205

3.  Serum IGF-1 is insufficient to restore skeletal size in the total absence of the growth hormone receptor.

Authors:  Yingjie Wu; Hui Sun; Jelena Basta-Pljakic; Luis Cardoso; Oran D Kennedy; Hector Jasper; Horacio Domené; Liliana Karabatas; Clara Guida; Mitchell B Schaffler; Clifford J Rosen; Shoshana Yakar
Journal:  J Bone Miner Res       Date:  2013-07       Impact factor: 6.741

Review 4.  Physiology and disorders of the growth hormone receptor (GHR) and GH-GHR signal transduction.

Authors:  A L Rosenbloom
Journal:  Endocrine       Date:  2000-04       Impact factor: 3.925

Review 5.  Insights from the clinical phenotype of subjects with Laron syndrome in Ecuador.

Authors:  Jaime Guevara-Aguirre; Camila Bautista; Carlos Torres; Gabriela Peña; Carolina Guevara; Cristina Palacios; Alexandra Guevara; Antonio W D Gavilanes
Journal:  Rev Endocr Metab Disord       Date:  2020-10-12       Impact factor: 6.514
  5 in total

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