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Wolf–Hirschhorn syndrome – a case report

Halyna Bulak, Dzwenyslava Kopanska

Affiliacja i adres do korespondencji
Pediatr Med Rodz 2017, 13 (2), p. 267–269
DOI: 10.15557/PiMR.2017.0029
Streszczenie

Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p). Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. The patient from our case report was hospitalised at the Lviv City Children’s Hospital at the age of six hours in a severe condition, with distinctive features of a genetic syndrome, which was connected with intraventricular haemorrhage. At the age of three months, he showed delayed physical and neurocognitive development and a characteristic appearance, which led to a specialist consultation to diagnose the genetic disease. This time, on the basis of clinical, laboratory and instrumental findings, the boy was diagnosed with Wolf–Hirschhorn syndrome.

Słowa kluczowe
Wolf–Hirschhorn syndrome, hypertelorism, microcephaly, micrognathia

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