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Aarskog syndrome: report of a family with review and discussion of nosology.
Am J Med Genet. 1993 Jun 15; 46(5):501-9.AJ

Abstract

Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.

Authors+Show Affiliations

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

8322809

Citation

Teebi, A S., et al. "Aarskog Syndrome: Report of a Family With Review and Discussion of Nosology." American Journal of Medical Genetics, vol. 46, no. 5, 1993, pp. 501-9.
Teebi AS, Rucquoi JK, Meyn MS. Aarskog syndrome: report of a family with review and discussion of nosology. Am J Med Genet. 1993;46(5):501-9.
Teebi, A. S., Rucquoi, J. K., & Meyn, M. S. (1993). Aarskog syndrome: report of a family with review and discussion of nosology. American Journal of Medical Genetics, 46(5), 501-9.
Teebi AS, Rucquoi JK, Meyn MS. Aarskog Syndrome: Report of a Family With Review and Discussion of Nosology. Am J Med Genet. 1993 Jun 15;46(5):501-9. PubMed PMID: 8322809.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Aarskog syndrome: report of a family with review and discussion of nosology. AU - Teebi,A S, AU - Rucquoi,J K, AU - Meyn,M S, PY - 1993/6/15/pubmed PY - 1993/6/15/medline PY - 1993/6/15/entrez SP - 501 EP - 9 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 46 IS - 5 N2 - Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8322809/Aarskog_syndrome:_report_of_a_family_with_review_and_discussion_of_nosology_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=46&issue=5&spage=501 DB - PRIME DP - Unbound Medicine ER -