File:Pitt-rogers-danks syndrome.jpg

From SignWiki
Jump to navigation Jump to search

Original file(1,200 × 1,394 pixels, file size: 324 KB, MIME type: image/jpeg)

This file is from Wikimedia Commons and may be used by other projects. The description on its file description page there is shown below.

Summary

Description
English: Patient aged 3 months (a,b) and 13 years (c,d) with 4p deletion. The patient was born to healthy, unrelated parents. She was born at 40 weeks of gestation with a birth weight of 2500 g, birth length of 46 cm and head circumference of 28.6 cm. Apgar scores were 10/1, 10/5. One older sibling was healthy. She thrived poorly and was found to be generally hypotonic 2 months old. Her development was retarded and she was admitted to hospital several times with infections and febrile convulsions. A chromosome analysis and metabolic screening at the time was normal. She was treated for epilepsy from the age of 2 years. Feeding problems were pronounced, and she was considered to have an autistic disorder. Her development corresponded to approximately 11–15 months at the age of 2 1/2 years. As she grew up she became fond of eating. MRI of the brain at the age of 9 years was normal. Menarche occurred at the age of 11 years. She had well-developed gross motor and some language skills at the age of 15 years. She was referred to subtelomere chromosome analysis at the age of 12 years because of MR, dwarfism with growth corresponding to -3SD (146 cm and 43 kg), hypotonia and dysmorphic features including microcephalia, micrognathia and protrusion of the eyeballs. Patient had deletion of 4pter including the Wolf-Hirschhorn syndrome region. This patient's phenotype was relatively mild and correlated with some patients previously described with similar 4p16.3 microdeletions. Some patients have been designated Pitt syndrome (Pitt-Rogers-Danks syndrome, PRDS), but recently it was argued that Pitt and Wolf-Hirshhorn syndromes represent phenotypic variations of the same microdeletion"
Polski: Pacjentka w wieku trzech miesięcy (góra) i 13 lat (dół) z cechami zespołu Pitta-Rogersa-Danksa i potwierdzoną mikrodelecją 4pter obejmującą region zespołu Wolfa-Hirsschhrona (WHS). Pacjentka urodziła się 23 października 2000 i otrzymała 4 punkty w skali APGAR. Urodziła się w 37. tygodniu ciąży z małą masą urodzeniową. Jej godzina urodzenia to 12:30. Jednak w wyniku obrażeń pacjentka zmarła 13 kwietnia 2013 z powodu silnych drgawek gorączkowych, o godzinie 23:40, w wieku 13 lat.
Date
Source Sogaard M, Tümer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Pedersen VF, Baekgaard P, Tommerup N, Cingöz S, Duno M, Brondum-Nielsen K. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet. 6, 21. 2005. doi:10.1186/1471-2350-6-21. PMID 15904506.
Author Marie Sogaard et al
Permission
(Reusing this file)
[1]

Licensing

w:en:Creative Commons
attribution
This file is licenced under the Creative Commons Attribution 2.0 Generic licence.
You are free:
  • to share – to copy, distribute and transmit the work
  • to remix – to adapt the work
Under the following conditions:
  • attribution – You must give appropriate credit, provide a link to the licence, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
Personality rights Although this work is freely licensed or in the public domain, the person(s) shown may have rights that legally restrict certain re-uses unless those depicted consent to such uses. In these cases, a model release or other evidence of consent could protect you from infringement claims. Though not obliged to do so, the uploader may be able to help you to obtain such evidence. See our general disclaimer for more information.

Captions

Add a one-line explanation of what this file represents

Items portrayed in this file

depicts

File history

Click on a date/time to view the file as it appeared at that time.

Date/TimeThumbnailDimensionsUserComment
current15:25, 22 June 2008Thumbnail for version as of 15:25, 22 June 20081,200 × 1,394 (324 KB)Filip em{{Information |Description={{en|1="The patient was born to healthy, unrelated parents. She was born at 40 weeks of gestation with a birth weight of 2500 g, birth length of 46 cm and head circumference of 28.6 cm. Apgar scores were 10/1, 10/5. One older si

The following 2 pages link to this file: