Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1980 Jun;17(3):235–238. doi: 10.1136/jmg.17.3.235

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

D D Hassinger, J J Mulvihill, J B Chandler
PMCID: PMC1048556  PMID: 7401138

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.

Full text

PDF
237

Images in this article

Selected References

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

  1. Archibald R. M., German J. The Aarskog-Scott syndrome in four brothers. Birth Defects Orig Artic Ser. 1975;11(2):25–29. [PubMed] [Google Scholar]
  2. Bartsocas C. S., Dimitriou J. K. Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. Birth Defects Orig Artic Ser. 1975;11(2):453–455. [PubMed] [Google Scholar]
  3. Escobar V., Weaver D. D. Aarskog syndrome. New findings and genetic analysis. JAMA. 1978 Dec 8;240(24):2638–2641. doi: 10.1001/jama.240.24.2638. [DOI] [PubMed] [Google Scholar]
  4. FISCH L. Deafness as part of an hereditary syndrome. J Laryngol Otol. 1959 Jun;73:355–382. doi: 10.1017/s0022215100055420. [DOI] [PubMed] [Google Scholar]
  5. Fryns J. P., Macken J., Vinken L., Igodt-Ameye L., van den Berghe H. The Aarskog syndrome. Hum Genet. 1978 Jun 9;42(2):129–135. doi: 10.1007/BF00283632. [DOI] [PubMed] [Google Scholar]
  6. Gordon H., Torrington M., Louw J. H., Cywes S. A genetical study of Hirschsprung's disease; congenital intestinal aganglionosis. S Afr Med J. 1966 Aug 13;40(30):720–721. [PubMed] [Google Scholar]
  7. Kirkham T. H., Milot J., Berman P. Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol. 1975 Mar;79(3):441–445. doi: 10.1016/0002-9394(75)90619-4. [DOI] [PubMed] [Google Scholar]
  8. McCredie J., Cameron J., Shoobridge R. Congenital malformations and the neural crest. Lancet. 1978 Oct 7;2(8093):761–763. doi: 10.1016/s0140-6736(78)92649-1. [DOI] [PubMed] [Google Scholar]
  9. Passarge E. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med. 1967 Jan 19;276(3):138–143. doi: 10.1056/NEJM196701192760303. [DOI] [PubMed] [Google Scholar]

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

RESOURCES