Kurt Hirschhorn

Kurt Hirschhorn (born May 18, 1926 in Vienna)[1] is an Austrian-born American pediatrician, medical geneticist, and cytogeneticist who identified the chromosomal defects that underlie Wolf-Hirschhorn syndrome.

In 1995, Hirschhorn was the recipient of the William Allan Award in human medical genetics. He is a fellow of the Hastings Center, an independent bioethics research institution. Along with his wife, Rochelle, he has a son, Joel Hirschhorn, who is also a human geneticist.[2]

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 Icahn School of Medicine at Mount Sinai in New York City.

gollark: I assumed this was basically a solved problem but all the recent things are documented in Chinese, which I can't actually read.

gollark: osmarksmemeautofiltering™ is currently going somewhat slowly due to difficulties finding good OCR stuff.

gollark: And even those bits have some notes on the "danger" of cold-boot attacks.

gollark: I like how the Alpine Linux https://wiki.alpinelinux.org/wiki/Setting_up_a_laptop page seems to be 75% ridiculously paranoid deniable encryption setup (dubiously useful, as nobody actually has disks full of random noise for no reason), with some short paragraphs on laptop things like actually having battery life.

gollark: Good news: memeCLOUD™ contains almost 4000 memetic hazards.

References

http://www.whonamedit.com/doctor.cfm/3356.html
Hirschhorn, Kurt; Hirschhorn, Rochelle; Hirschhorn, Joel N. (2017-08-31). "A Conversation with Kurt and Rochelle Hirschhorn". Annual Review of Genomics and Human Genetics. 18 (1): 31–44. doi:10.1146/annurev-genom-080316-090927. ISSN 1527-8204.

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. doi:10.1007/bf00279124. PMID 5895684.
Childs, Barton (2003-01-23). "Introductory Speech for Kurt Hirschhorn". American Society of Human Genetics. 72 (2): 241. doi:10.1086/346212. PMC 379217. PMID 12635649.
"The Mount Sinai Medical Center Profile".

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[1] ttp://www.whonamedit.com/doctor.cfm/3356.html

[2] Hirschhorn, Kurt; Hirschhorn, Rochelle; Hirschhorn, Joel N. (2017-08-31). "A Conversation with Kurt and Rochelle Hirschhorn". Annual Review of Genomics and Human Genetics. 18 (1): 31–44. doi:10.1146/annurev-genom-080316-090927. ISSN 1527-8204.