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Autosomal dominant inheritance in Setleis syndrome.
Am J Med Genet. 1995 May 22; 57(1):57-60.AJ

Abstract

Setleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and "leonine" facial appearance. The cause is unknown, although autosomal recessive inheritance has been proposed. Recently, two families were reported in which one of the parents of a patient with Setleis syndrome showed mild manifestations, suggesting autosomal dominant inheritance. We describe a 9-month-old Japanese boy with typical Setleis syndrome. His father, who has normal intelligence, has bitemporal focal dermal dysplasia but a normal face. His paternal second cousin also has Setleis syndrome. This family shows autosomal dominant inheritance including father-to-son transmission of Setleis syndrome with variable expressivity and reduced penetrance. Careful examination of the relatives of patients with Setleis syndrome is recommended.

Authors+Show Affiliations

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7645599

Citation

Masuno, M, et al. "Autosomal Dominant Inheritance in Setleis Syndrome." American Journal of Medical Genetics, vol. 57, no. 1, 1995, pp. 57-60.
Masuno M, Imaizumi K, Makita Y, et al. Autosomal dominant inheritance in Setleis syndrome. Am J Med Genet. 1995;57(1):57-60.
Masuno, M., Imaizumi, K., Makita, Y., Nakamura, M., & Kuroki, Y. (1995). Autosomal dominant inheritance in Setleis syndrome. American Journal of Medical Genetics, 57(1), 57-60.
Masuno M, et al. Autosomal Dominant Inheritance in Setleis Syndrome. Am J Med Genet. 1995 May 22;57(1):57-60. PubMed PMID: 7645599.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant inheritance in Setleis syndrome. AU - Masuno,M, AU - Imaizumi,K, AU - Makita,Y, AU - Nakamura,M, AU - Kuroki,Y, PY - 1995/5/22/pubmed PY - 1995/5/22/medline PY - 1995/5/22/entrez SP - 57 EP - 60 JF - American journal of medical genetics JO - Am J Med Genet VL - 57 IS - 1 N2 - Setleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and "leonine" facial appearance. The cause is unknown, although autosomal recessive inheritance has been proposed. Recently, two families were reported in which one of the parents of a patient with Setleis syndrome showed mild manifestations, suggesting autosomal dominant inheritance. We describe a 9-month-old Japanese boy with typical Setleis syndrome. His father, who has normal intelligence, has bitemporal focal dermal dysplasia but a normal face. His paternal second cousin also has Setleis syndrome. This family shows autosomal dominant inheritance including father-to-son transmission of Setleis syndrome with variable expressivity and reduced penetrance. Careful examination of the relatives of patients with Setleis syndrome is recommended. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/7645599/Autosomal_dominant_inheritance_in_Setleis_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=57&issue=1&spage=57 DB - PRIME DP - Unbound Medicine ER -