Literature DB >> 7401138

Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies.

D D Hassinger, J J Mulvihill, J B Chandler.   

Abstract

A 23-year-old man with Aarskog's syndrome had Hirschspring's disease, midgut malrotation, a renal cyst, a cartilaginous projection of the pinna, geographic tongue, and dental anomalies. The family history, negative for these features, including several malignancies. Any or all of these features could be considered part of Aarskog's syndrome and may represent anomalies of neural crest development.

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Year:  1980        PMID： 7401138      PMCID： PMC1048556          DOI： 10.1136/jmg.17.3.235

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


  9 in total

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Authors:  L FISCH
Journal:  J Laryngol Otol       Date:  1959-06       Impact factor: 1.469

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Authors:  C S Bartsocas; J K Dimitriou
Journal:  Birth Defects Orig Artic Ser       Date:  1975

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Authors:  R M Archibald; J German
Journal:  Birth Defects Orig Artic Ser       Date:  1975

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Authors:  E Passarge
Journal:  N Engl J Med       Date:  1967-01-19       Impact factor: 91.245

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Authors:  J McCredie; J Cameron; R Shoobridge
Journal:  Lancet       Date:  1978-10-07       Impact factor: 79.321

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Authors:  V Escobar; D D Weaver
Journal:  JAMA       Date:  1978-12-08       Impact factor: 56.272

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Authors:  J P Fryns; J Macken; L Vinken; L Igodt-Ameye; H van den Berghe
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

8.  Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome.

Authors:  T H Kirkham; J Milot; P Berman
Journal:  Am J Ophthalmol       Date:  1975-03       Impact factor: 5.258

9.  A genetical study of Hirschsprung's disease; congenital intestinal aganglionosis.

Authors:  H Gordon; M Torrington; J H Louw; S Cywes
Journal:  S Afr Med J       Date:  1966-08-13
  9 in total
  5 in total

1.  Aarskog syndrome.

Authors:  M E Porteous; D R Goudie
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

2.  Hirschsprung's disease and asymptomatic malrotation: a rare association.

Authors:  O Tamburrini; A Bartolomeo-De Iuri; P Palescandolo; A Marte; G Amici
Journal:  Pediatr Radiol       Date:  1986

3.  Megacolon in third-phase malrotation with delayed migration and degeneration of intramural ganglionic cells and nerves.

Authors:  G Lassmann
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

4.  New autosomal recessive faciodigitogenital syndrome.

Authors:  A S Teebi; K K Naguib; S Al-Awadi; Q A Al-Saleh
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

5.  Nucleoporin 62-Like Protein is Required for the Development of Pharyngeal Arches through Regulation of Wnt/β-Catenin Signaling and Apoptotic Homeostasis in Zebrafish.

Authors:  Xiaojie Yang; Xixi Li; Qilin Gu; Qing Li; Zongbin Cui
Journal:  Cells       Date:  2019-09-05       Impact factor: 6.600
  5 in total

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