FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2004990556> ?p ?o ?g. }

• W2004990556 endingPage "55" @default.
• W2004990556 startingPage "19" @default.
• W2004990556 abstract "We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such as aglossia-adactylia syndrome, glosso-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was possible to compare these cases quantitatively and to determine the nosologic significance of associated cranial nerve palsies and chest abnormalities. We analyzed 7 personal and 62 previously reported cases and found: 1. that the severity in the upper limbs and particularly, malformations of the feet, but not the presence or absence of cranial nerve palsies, is a significant feature in the differentiation of cases, and 2. that the group of patients with cranial nerve palsies includes some with limb defects similar to those in the Hanhart syndrome and others with features which overlap the manifestations of the Poland syndrome. Still other cases had cranial nerve palsy as an isolated trait or as a component manifestation of several different syndromes. These findings permit re-definition and nosologic delimitation of the various syndromes as follows: 1. The Hanhart syndrome: usually severe limb defect of at least one hand or foot, frequently associated with severe oral abnormalities and sometimes also with cranial nerve palsy. Most cases reported as aglossia-adactylia syndrome, aglossia-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Möbius syndrome describe instances of the Hanhart syndrome. 2. The Poland-Möbius syndrome: we suggest this term to refer to those cases of “Möbius syndrome” which have a chest defect and/or symbrachydactyly of the type seen in the Poland syndrome. We suspect that these cases of the “Möbius syndrome,” and most of the cases which are usually diagnosed as Poland syndrome represent a different spectrum of the same condition, hence the term Poland-Möbius syndrome. 3. The autosomal dominant cleft palate/lateral synechiae syndrome delineated by Fuhrmann et al. and other apparently less frequent conditions are mentioned in the discussion. Cranial nerve palsy obviously occurs in several etiologically distinct conditions. An analogous situation is present, although less obvious, in the Hanhart and the Poland-Möbius syndrome. Both of these conditions are formal genesis malformation syndromes which implies that they are etiologically non-specific developmental field complexes. In the Hanhart syndrome Bersu et al. postulate a common pathogenetic disturbance for oral and limb defects, thus suggesting that the manifestations represent a single anomaly rather a “syndrome.” This anomaly, for which we suggest the term Kettner anomaly, may occur not only in the Hanhart syndrome but also in other conditions. Similarly, the Poland anomaly, i.e. symbrachydactyly and ipsilateral pectoralis muscle hypoplasia, may occur in the Poland-Möbius syndrome as well as in other conditions." @default.
• W2004990556 created "2016-06-24" @default.
• W2004990556 creator A5001725613 @default.
• W2004990556 creator A5052388588 @default.
• W2004990556 creator A5053149797 @default.
• W2004990556 creator A5055483135 @default.
• W2004990556 creator A5067402788 @default.
• W2004990556 creator A5079264254 @default.
• W2004990556 creator A5089489424 @default.
• W2004990556 date "1976-03-01" @default.
• W2004990556 modified "2023-10-17" @default.
• W2004990556 title "Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome" @default.
• W2004990556 cites W1518908993 @default.
• W2004990556 cites W1600798608 @default.
• W2004990556 cites W17093428 @default.
• W2004990556 cites W1966059741 @default.
• W2004990556 cites W1970937461 @default.
• W2004990556 cites W1972562781 @default.
• W2004990556 cites W1978998055 @default.
• W2004990556 cites W1991606105 @default.
• W2004990556 cites W1993679954 @default.
• W2004990556 cites W2002909410 @default.
• W2004990556 cites W2004315502 @default.
• W2004990556 cites W2006926175 @default.
• W2004990556 cites W2010768904 @default.
• W2004990556 cites W2012306276 @default.
• W2004990556 cites W2017115544 @default.
• W2004990556 cites W2018857797 @default.
• W2004990556 cites W2019642230 @default.
• W2004990556 cites W2020499564 @default.
• W2004990556 cites W2028564290 @default.
• W2004990556 cites W2029022143 @default.
• W2004990556 cites W2036031958 @default.
• W2004990556 cites W2056724880 @default.
• W2004990556 cites W2058613557 @default.
• W2004990556 cites W2058861897 @default.
• W2004990556 cites W2062531312 @default.
• W2004990556 cites W2071396448 @default.
• W2004990556 cites W2116425215 @default.
• W2004990556 cites W2131216919 @default.
• W2004990556 cites W2137789453 @default.
• W2004990556 cites W2141926253 @default.
• W2004990556 cites W2152836640 @default.
• W2004990556 cites W2204357947 @default.
• W2004990556 cites W2211914549 @default.
• W2004990556 cites W2247986561 @default.
• W2004990556 cites W2313501928 @default.
• W2004990556 cites W2315081079 @default.
• W2004990556 cites W2319455642 @default.
• W2004990556 cites W2327721957 @default.
• W2004990556 cites W2331689936 @default.
• W2004990556 cites W2395859621 @default.
• W2004990556 cites W2397391166 @default.
• W2004990556 cites W2399839594 @default.
• W2004990556 cites W2401292586 @default.
• W2004990556 cites W2402402741 @default.
• W2004990556 cites W2405601278 @default.
• W2004990556 cites W2409636071 @default.
• W2004990556 cites W2409976881 @default.
• W2004990556 cites W2410327859 @default.
• W2004990556 cites W2410561561 @default.
• W2004990556 cites W2410605260 @default.
• W2004990556 cites W2413537927 @default.
• W2004990556 cites W2413603039 @default.
• W2004990556 cites W2413927057 @default.
• W2004990556 cites W2415093535 @default.
• W2004990556 cites W2415106348 @default.
• W2004990556 cites W2415262800 @default.
• W2004990556 cites W2415653469 @default.
• W2004990556 cites W2416178751 @default.
• W2004990556 cites W2417962963 @default.
• W2004990556 cites W2431797561 @default.
• W2004990556 cites W2431879366 @default.
• W2004990556 cites W2435416546 @default.
• W2004990556 cites W2469095594 @default.
• W2004990556 cites W2614883164 @default.
• W2004990556 cites W3090468904 @default.
• W2004990556 cites W4231329803 @default.
• W2004990556 cites W4237519123 @default.
• W2004990556 cites W4322695838 @default.
• W2004990556 cites W2425266680 @default.
• W2004990556 cites W4301327064 @default.
• W2004990556 doi "https://doi.org/10.1007/bf00445030" @default.
• W2004990556 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1261566" @default.
• W2004990556 hasPublicationYear "1976" @default.
• W2004990556 type Work @default.
• W2004990556 sameAs 2004990556 @default.
• W2004990556 citedByCount "80" @default.
• W2004990556 countsByYear W20049905562012 @default.
• W2004990556 countsByYear W20049905562013 @default.
• W2004990556 countsByYear W20049905562014 @default.
• W2004990556 countsByYear W20049905562016 @default.
• W2004990556 countsByYear W20049905562017 @default.
• W2004990556 countsByYear W20049905562018 @default.
• W2004990556 countsByYear W20049905562019 @default.
• W2004990556 countsByYear W20049905562022 @default.
• W2004990556 crossrefType "journal-article" @default.
• W2004990556 hasAuthorship W2004990556A5001725613 @default.

• next