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A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
Am J Med Genet A. 2009 Dec; 149A(12):2655-60.AJ

Abstract

We report on three individuals of Muslim Arab origin from a village located in Northern Israel affected by an apparent autosomal recessive syndrome characterized by distinctive facial phenotype of which the most prominent feature is ocular hypertelorism. The other clinical features of the syndrome include variable degree of mental retardation, genital abnormalities dominated by short penis, and skeletal abnormalities including chest deformity (combination of upper pectus carinatum with lower pectus excavatum), and short palms with broad short fingers. Affected individuals displayed distinctive facial features including upslanting palpebral fissures, thick eyebrows, long philtrum, wide mouth with thin upper lip and upturned corners of the mouth, widow's peak, broad nasal bridge, and simple ears with fleshy overfolded helices. This phenotype does not fully meet typical diagnostic features of any known condition.

Authors+Show Affiliations

Department of Pediatrics A, Genetic Institute, Ha'Emek Medical Center, Afula, Israel. spiegelr@zahav.net.ilNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19938075

Citation

Spiegel, Ronen, et al. "A New Autosomal Recessive Syndrome Characterized By Ocular Hypertelorism, Distinctive Face, Mental Retardation, Brachydactyly, and Genital Abnormalities." American Journal of Medical Genetics. Part A, vol. 149A, no. 12, 2009, pp. 2655-60.
Spiegel R, Horovitz Y, Peters H, et al. A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. Am J Med Genet A. 2009;149A(12):2655-60.
Spiegel, R., Horovitz, Y., Peters, H., Erdogan, F., Chervinsky, I., & Shalev, S. A. (2009). A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. American Journal of Medical Genetics. Part A, 149A(12), 2655-60. https://doi.org/10.1002/ajmg.a.33127
Spiegel R, et al. A New Autosomal Recessive Syndrome Characterized By Ocular Hypertelorism, Distinctive Face, Mental Retardation, Brachydactyly, and Genital Abnormalities. Am J Med Genet A. 2009;149A(12):2655-60. PubMed PMID: 19938075.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. AU - Spiegel,Ronen, AU - Horovitz,Yoseph, AU - Peters,Hartmut, AU - Erdogan,Fikret, AU - Chervinsky,Ilana, AU - Shalev,Stavit A, PY - 2009/11/26/entrez PY - 2009/11/26/pubmed PY - 2010/1/28/medline SP - 2655 EP - 60 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 149A IS - 12 N2 - We report on three individuals of Muslim Arab origin from a village located in Northern Israel affected by an apparent autosomal recessive syndrome characterized by distinctive facial phenotype of which the most prominent feature is ocular hypertelorism. The other clinical features of the syndrome include variable degree of mental retardation, genital abnormalities dominated by short penis, and skeletal abnormalities including chest deformity (combination of upper pectus carinatum with lower pectus excavatum), and short palms with broad short fingers. Affected individuals displayed distinctive facial features including upslanting palpebral fissures, thick eyebrows, long philtrum, wide mouth with thin upper lip and upturned corners of the mouth, widow's peak, broad nasal bridge, and simple ears with fleshy overfolded helices. This phenotype does not fully meet typical diagnostic features of any known condition. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/19938075/A_new_autosomal_recessive_syndrome_characterized_by_ocular_hypertelorism_distinctive_face_mental_retardation_brachydactyly_and_genital_abnormalities_ L2 - https://doi.org/10.1002/ajmg.a.33127 DB - PRIME DP - Unbound Medicine ER -