Literature DB >> 8950682

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

A D Irvine1, O M Dolan, D R Hadden, F J Stewart, E A Bingham, N C Nevin.   

Abstract

We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.

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Year:  1996        PMID： 8950682      PMCID： PMC1050796          DOI： 10.1136/jmg.33.11.972

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


  9 in total

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9.  Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome.

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  9 in total
  8 in total

1.  Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Authors:  Mazen Kurban; Chong Ae Kim; Maija Kiuru; Katherine Fantauzzo; Rita Cabral; Ossama Abbas; Brynn Levy; Angela M Christiano
Journal:  Dermatology       Date:  2012-02-03       Impact factor: 5.366

2.  Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.

Authors:  Miao Sun; Ning Li; Wu Dong; Zugen Chen; Qing Liu; Yiming Xu; Guang He; Yongyong Shi; Xin Li; Jiajie Hao; Yang Luo; Dandan Shang; Dan Lv; Fen Ma; Dai Zhang; Rui Hua; Chaoxia Lu; Yaran Wen; Lihua Cao; Alan D Irvine; W H Irwin McLean; Qi Dong; Ming-Rong Wang; Jun Yu; Lin He; Wilson H Y Lo; Xue Zhang
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3.  Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy.

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

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

6.  Cantú syndrome with coexisting familial pituitary adenoma.

Authors:  Pedro Marques; Rupert Spencer; Patrick J Morrison; Ian M Carr; Mary N Dang; David T Bonthron; Steven Hunter; Márta Korbonits
Journal:  Endocrine       Date:  2018-01-11       Impact factor: 3.633

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Journal:  PLoS Biol       Date:  2004-01-20       Impact factor: 8.029

8.  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
  8 in total

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