Literature DB >> 8326495

A large family with patent ductus arteriosus and unusual face.

H R Davidson1.   

Abstract

A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.

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Year:  1993        PMID: 8326495      PMCID: PMC1016426          DOI: 10.1136/jmg.30.6.503

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


  7 in total

1.  Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).

Authors:  I K Temple
Journal:  Clin Dysmorphol       Date:  1992-01       Impact factor: 0.816

2.  Familial patent ductus arteriosus.

Authors:  D BURMAN
Journal:  Br Heart J       Date:  1961-09

3.  Familial persistent ductus arteriosus.

Authors:  R P Martin; N R Banner; R Radley-Smith
Journal:  Arch Dis Child       Date:  1986-09       Impact factor: 3.791

4.  Natural history of persistent ductus arteriosus.

Authors:  M Campbell
Journal:  Br Heart J       Date:  1968-01

5.  Familial patent ductus arteriosus.

Authors:  J Wei; Y C Chang; G C Ko; S M Shieh
Journal:  Am J Cardiol       Date:  1984-07-01       Impact factor: 2.778

6.  Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome?

Authors:  F Char
Journal:  Birth Defects Orig Artic Ser       Date:  1978

7.  Patent ductus arteriosus. Study of two families.

Authors:  H T Lynch; R L Grissom; C R Magnuson; A Krush
Journal:  JAMA       Date:  1965-10-11       Impact factor: 56.272

  7 in total
  3 in total

1.  Case report of a 26 year old primigravida with patent ductus arteriosus (PDA) in heart failure.

Authors:  A A Akintunde; O G Opadijo
Journal:  Afr Health Sci       Date:  2011-03       Impact factor: 0.927

2.  Further family with autosomal dominant patent ductus arteriosus.

Authors:  C G Woods; L J Sheffield
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

3.  Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2β.

Authors:  Ayaka Nakai; Tomoyuki Fujiyama; Nanae Nagata; Mitsuaki Kashiwagi; Aya Ikkyu; Marina Takagi; Chika Tatsuzawa; Kaeko Tanaka; Miyo Kakizaki; Mika Kanuka; Taizo Kawano; Seiya Mizuno; Fumihiro Sugiyama; Satoru Takahashi; Hiromasa Funato; Takeshi Sakurai; Masashi Yanagisawa; Yu Hayashi
Journal:  Genetics       Date:  2020-09-02       Impact factor: 4.562

  3 in total

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