A New Autosomal Recessive Syndrome Characterized by Ocular Hypertelorism, Distinctive Face, Mental Retardation, Brachydactyly, and Genital Abnormalities

作者：Spiegel Ronen^*; Horovitz Yoseph; Peters Hartmut; Erdogan Fikret; Chervinsky Ilana; Shalev Stavit A

来源：American Journal of Medical Genetics, Part A, 2009, 149A(12): 2655-2660.

DOI：10.1002/ajmg.a.33127

• hypertelorism
• autosomal recessive
• brachydactyly

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.

• 出版日期2009-12
• 单位河北医科大学