Kurt Hirschhorn (born 1926), is an Viennese born American pediatrician, medical geneticist, and cytogeneticist who identified the chromosomal defects that underlie Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome (WHS), caused by a chromosomal abnormality, is characterized by typical craniofacial features in infancy consisting of "Greek warrior helmet appearance" of the nose (the broad bridge of the nose continuing to the forehead), microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with pits/tags. All affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment. Developmental delay and mental retardation of variable degree is present in all.
Dr. Kurt Hirschhorn is currently Professor of Pediatrics, Genetics and Genomic Sciences, and Medicine Chairman Emeritus of Pediatrics at the Mount Sinai School of Medicine.
- Cooper H, Hirschhorn K (1961). "Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion". Mammalian Chromosomes Newsletter 4 (14).
- Hirschhorn K, Cooper HL, Firschein IL. (1965). "Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion". Humangenetik 1 (5): 479–82. PMID 5895684.
- Childs, Barton; Van Es, LA (2003-01-23). "Introductory Speech for Kurt Hirschhorn". American Society of Human Genetics 72 (2): 755–8. PMID 379217.
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