Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1986 Apr;23(2):161–164. doi: 10.1136/jmg.23.2.161

A Noonan-like short stature syndrome with sparse hair.

M Baraitser, M A Patton
PMCID: PMC1049573  PMID: 3712393

Abstract

Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.

Full text

PDF
161

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bolton M. R., Pugh D. M., Mattioli L. F., Dunn M. I., Schimke R. N. The Noonan syndrome: a family study. Ann Intern Med. 1974 May;80(5):626–629. doi: 10.7326/0003-4819-80-5-626. [DOI] [PubMed] [Google Scholar]
  2. HELLER R. H. THE TURNER PHENOTYPE IN THE MALE. J Pediatr. 1965 Jan;66:48–63. doi: 10.1016/s0022-3476(65)80337-7. [DOI] [PubMed] [Google Scholar]
  3. Pierini D. O., Pierini A. M. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. Br J Dermatol. 1979 Apr;100(4):409–416. doi: 10.1111/j.1365-2133.1979.tb01641.x. [DOI] [PubMed] [Google Scholar]
  4. Wilroy R. S., Jr, Summitt R. L., Tipton R. E., Primm P. A., Martens P. R. Phenotypic heterogeneity in the Noonan syndrome. Birth Defects Orig Artic Ser. 1979;15(5B):305–311. [PubMed] [Google Scholar]
  5. Wyre H. W., Jr Cutaneous manifestations of Noonan's syndrome. Arch Dermatol. 1978 Jun;114(6):929–930. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES