Cover Image

Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities

Abstract: We report a 21-month-old girl with symptoms consistent with the Zunich neuroectodermal syndrome, an apparently rare condition first described in 1983, Common features of all previously reported patients as well as in this child are characteristic craniofacial dysmorphism, bilateral colobom...

Full description

Saved in:
Bibliographic Details
Main Authors: Tinschert, Sigrid (Author) , Anton-Lamprecht, Ingrun (Author) , Albrecht-Nebe, Helga (Author) , Audring, Heike (Author)
Format: Article (Journal)
Language:English
Published: 1996
In: Pediatric dermatology
Year: 1996, Volume: 13, Issue: 5, Pages: 363-371
ISSN:1525-1470
DOI:10.1111/j.1525-1470.1996.tb00702.x
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/j.1525-1470.1996.tb00702.x
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1525-1470.1996.tb00702.x
Get full text
Author Notes:Sigrid Tinschert, Ingrun Anton-Lamprecht, Helga Albrecht-Nebe, Heike Audring

MARC

LEADER 00000caa a2200000 c 4500
001 1860381189
003 DE-627
005 20240311153823.0
007 cr uuu---uuuuu
008 230927s1996 xx |||||o 00| ||eng c
024 7 |a 10.1111/j.1525-1470.1996.tb00702.x  |2 doi 
035 |a (DE-627)1860381189 
035 |a (DE-599)KXP1860381189 
035 |a (OCoLC)1425892117 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Tinschert, Sigrid  |d 1954-  |e VerfasserIn  |0 (DE-588)111403804  |0 (DE-627)470641045  |0 (DE-576)289701295  |4 aut 
245 1 0 |a Zunich neuroectodermal syndrome  |b migratory ichthyosiform dermatosis, colobomas, and other abnormalities  |c Sigrid Tinschert, Ingrun Anton-Lamprecht, Helga Albrecht-Nebe, Heike Audring 
264 1 |c 1996 
300 |a 9 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 27.09.2023 
520 |a Abstract: We report a 21-month-old girl with symptoms consistent with the Zunich neuroectodermal syndrome, an apparently rare condition first described in 1983, Common features of all previously reported patients as well as in this child are characteristic craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, Ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Light microscopic and uttrastructural investigations of the affected skin showed characteristic but nonspecific changes. The structural hair shaft abnormalities as well as the dysplastic nails in our patient have not been described before and are consistent with the previous assumption of an ectodermal dysplasia syndrome. 
700 1 |a Anton-Lamprecht, Ingrun  |d 1932-  |e VerfasserIn  |0 (DE-588)1012403467  |0 (DE-627)699691222  |0 (DE-576)345379152  |4 aut 
700 1 |a Albrecht-Nebe, Helga  |e VerfasserIn  |0 (DE-588)1163558710  |0 (DE-627)1027879918  |0 (DE-576)508049997  |4 aut 
700 1 |a Audring, Heike  |e VerfasserIn  |0 (DE-588)17359350X  |0 (DE-627)698503767  |0 (DE-576)134437039  |4 aut 
773 0 8 |i Enthalten in  |t Pediatric dermatology  |d Oxford [u.a.] : Wiley-Blackwell, 1983  |g 13(1996), 5, Seite 363-371  |h Online-Ressource  |w (DE-627)320606651  |w (DE-600)2020833-9  |w (DE-576)091170176  |x 1525-1470  |7 nnas  |a Zunich neuroectodermal syndrome migratory ichthyosiform dermatosis, colobomas, and other abnormalities 
773 1 8 |g volume:13  |g year:1996  |g number:5  |g pages:363-371  |g extent:9  |a Zunich neuroectodermal syndrome migratory ichthyosiform dermatosis, colobomas, and other abnormalities 
856 4 0 |u https://doi.org/10.1111/j.1525-1470.1996.tb00702.x  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
856 4 0 |u https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1525-1470.1996.tb00702.x  |x Verlag  |z lizenzpflichtig  |3 Volltext 
951 |a AR 
992 |a 20230927 
993 |a Article 
994 |a 1996 
998 |g 1012403467  |a Anton-Lamprecht, Ingrun  |m 1012403467:Anton-Lamprecht, Ingrun  |d 910000  |d 911300  |d 50000  |e 910000PA1012403467  |e 911300PA1012403467  |e 50000PA1012403467  |k 0/910000/  |k 1/910000/911300/  |k 0/50000/  |p 2 
999 |a KXP-PPN1860381189  |e 4379541819 
BIB |a Y 
SER |a journal 
JSO |a {"recId":"1860381189","language":["eng"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"note":["Gesehen am 27.09.2023"],"person":[{"display":"Tinschert, Sigrid","roleDisplay":"VerfasserIn","role":"aut","family":"Tinschert","given":"Sigrid"},{"given":"Ingrun","family":"Anton-Lamprecht","role":"aut","roleDisplay":"VerfasserIn","display":"Anton-Lamprecht, Ingrun"},{"given":"Helga","family":"Albrecht-Nebe","role":"aut","roleDisplay":"VerfasserIn","display":"Albrecht-Nebe, Helga"},{"family":"Audring","given":"Heike","roleDisplay":"VerfasserIn","display":"Audring, Heike","role":"aut"}],"title":[{"title":"Zunich neuroectodermal syndrome","subtitle":"migratory ichthyosiform dermatosis, colobomas, and other abnormalities","title_sort":"Zunich neuroectodermal syndrome"}],"relHost":[{"physDesc":[{"extent":"Online-Ressource"}],"id":{"zdb":["2020833-9"],"eki":["320606651"],"doi":["10.1111/(ISSN)1525-1470"],"issn":["1525-1470"]},"origin":[{"publisherPlace":"Oxford [u.a.] ; Oxford ; Oxford [u.a.]","publisher":"Wiley-Blackwell ; Blackwell Science ; Blackwell","dateIssuedKey":"1983","dateIssuedDisp":"1983-"}],"name":{"displayForm":["Society for Pediatric Dermatology and International Society of Pediatric Dermatology"]},"part":{"year":"1996","pages":"363-371","issue":"5","text":"13(1996), 5, Seite 363-371","volume":"13","extent":"9"},"pubHistory":["1.1983/84 -"],"recId":"320606651","language":["eng"],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Zunich neuroectodermal syndrome migratory ichthyosiform dermatosis, colobomas, and other abnormalitiesPediatric dermatology","title":[{"title":"Pediatric dermatology","title_sort":"Pediatric dermatology"}]}],"physDesc":[{"extent":"9 S."}],"name":{"displayForm":["Sigrid Tinschert, Ingrun Anton-Lamprecht, Helga Albrecht-Nebe, Heike Audring"]},"id":{"eki":["1860381189"],"doi":["10.1111/j.1525-1470.1996.tb00702.x"]},"origin":[{"dateIssuedKey":"1996","dateIssuedDisp":"1996"}]} 
SRT |a TINSCHERTSZUNICHNEUR1996 

Similar Items