Literature DB >> 15365463

Acromegaloid facial appearance syndrome: a further case report.

Usha Kini1, Jill Clayton-Smith.   

Abstract

We report a further patient with the acromegaloid facial appearance (AFA) syndrome. The phenotype of our patient includes a progressively coarse acromegaloid-like facial appearance with thickening of the lips and of the gums as previously described and severe learning difficulties. The patient's paternal grandmother also shows some features of the condition, suggesting autosomal dominant inheritance with incomplete penetrance in this family.

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Year:  2004        PMID： 15365463     DOI： 10.1097/00019605-200410000-00010

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  5 in total

1.  Cantú Syndrome Associated with Ovarian Agenesis.

Authors:  Helena Fryssira; Stavroula Psoni; Styliani Amenta; Eirini Tsoutsou; Christalena Sofocleous; Emmanouil Manolakos; Maria Gavra; Hermann-Joseph Lüdecke; Johanna-Christina Czeschik
Journal:  Mol Syndromol       Date:  2017-05-10

2.  Acromegaloid facial appearance: case report and literature review.

Authors:  Adline Ghazi; Shikha Khosla; Kenneth Becker
Journal:  Case Rep Endocrinol       Date:  2013-02-28

3.  Rare Diseases with Periodontal Manifestations.

Authors:  Marcel Hanisch; Thomas Hoffmann; Lauren Bohner; Lale Hanisch; Korbinian Benz; Johannes Kleinheinz; Jochen Jackowski
Journal:  Int J Environ Res Public Health       Date:  2019-03-09       Impact factor: 3.390

4.  ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Authors:  Marie F Smeland; Conor McClenaghan; Helen I Roessler; Sanne Savelberg; Geir Åsmund Myge Hansen; Helene Hjellnes; Kjell Arne Arntzen; Kai Ivar Müller; Andreas Rosenberger Dybesland; Theresa Harter; Monica Sala-Rabanal; Chris H Emfinger; Yan Huang; Soma S Singareddy; Jamie Gunn; David F Wozniak; Attila Kovacs; Maarten Massink; Federico Tessadori; Sarah M Kamel; Jeroen Bakkers; Maria S Remedi; Marijke Van Ghelue; Colin G Nichols; Gijs van Haaften
Journal:  Nat Commun       Date:  2019-10-01       Impact factor: 14.919

5.  Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Authors:  Harry Pachajoa; William López-Quintero; Sara Vanegas; Claudia L Montoya; Diana Ramírez-Montaño
Journal:  Appl Clin Genet       Date:  2018-03-23
  5 in total

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