Literature DB >> 669698

The Aarskog syndrome.

J P Fryns, J Macken, L Vinken, L Igodt-Ameye, H van den Berghe.   

Abstract

In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.

Entities:  

Mesh：

Year:  1978        PMID： 669698     DOI： 10.1007/BF00283632

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

1.  Aarskog syndrome: new oral-facial findings.

Authors:  M Melnick; E D Shields
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

2.  The Aarskog syndrome.

Authors:  C T Furukawa; B D Hall; D W Smith
Journal:  J Pediatr       Date:  1972-12       Impact factor: 4.406

3.  A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

Authors:  D Aarskog
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

4.  Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.

Authors:  C I Scott
Journal:  Birth Defects Orig Artic Ser       Date:  1971-05

5.  The facial-digital-genital (Aarskog) syndrome.

Authors:  G I Sugarman; D L Rimoin; R S Lachman
Journal:  Am J Dis Child       Date:  1973-08

6.  Inheritance of the Aarskog syndrome.

Authors:  P Berman; C Desjardins; F C Fraser
Journal:  Birth Defects Orig Artic Ser       Date:  1974

7.  A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

Authors:  D Aarskog
Journal:  Birth Defects Orig Artic Ser       Date:  1971-05
  7 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.  Aarskog's syndrome.

Authors:  C Berry; J Cree; T Mann
Journal:  Arch Dis Child       Date:  1980-09       Impact factor: 3.791

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

Authors:  D D Hassinger; J J Mulvihill; J B Chandler
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

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.  Cerebrovascular disease associated with Aarskog-Scott syndrome.

Authors:  Michael L Diluna; Nduka M Amankulor; Michele H Johnson; Murat Gunel
Journal:  Neuroradiology       Date:  2007-02-10       Impact factor: 2.995
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.