Wolf–Hirschhorn syndrome – a case report
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, wi...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Medical Communications Sp. z o.o.
2017-06-01
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| Series: | Pediatria i Medycyna Rodzinna |
| Subjects: | |
| Online Access: | http://www.pimr.pl/index.php/issues/2017-vol-13-no-2/wolf-hirschhorn-syndrome-a-case-report?aid=1077 |
| Summary: | 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. |
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| ISSN: | 1734-1531 2451-0742 |