title: A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
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: Department of Pediatrics A, Genetic Institute, Ha'Emek Medical Center, Afula, Israel. spiegelr@zahav.net.il
authors: Ronen
authors: R
authors: Spiegel
authors: Yoseph
authors: Y
authors: Horovitz
authors: Hartmut
authors: H
authors: Peters
authors: Fikret
authors: F
authors: Erdogan
authors: Ilana
authors: I
authors: Chervinsky
authors: Stavit A
authors: SA
authors: Shalev
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005835:Genitalia / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000150:complications* / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome; D055815:Young Adult