Results 141 to 150 of about 1,472 (192)

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

, 1996
Mei Wang, Carol L. Clericuzio, Maurice Godfrey   +2 more
openalex  

Trigger Thumb, Trigger Finger and Clasped Thumb. [PDF]

Children (Basel)
Carvalho M, Barreto MI, Alves C, Soldado F.   +3 more
europepmc   +1 more source

Genetic models of fibrillinopathies. [PDF]

Genetics
Summers KM.
europepmc   +1 more source

Funktionelle Rolle von extrazellulären mikrofibrillären Netzwerken im Skelettmuskel [PDF]

, 2019
Hildebrandt, Katrin
core  

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review. [PDF]

Ital J Pediatr
Russo M, Palmeri S, Zucconi A, Vagge A, Arioni C.   +4 more
europepmc   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography. [PDF]

Dev Med Child Neurol
Alarcón A, Carreras N, Muehlbacher T, Casas-Alba D, Arena R, Roca-Llabrés P, Navarro-Morón J, de Vries LS, Govaert P, EurUS.Brain group.   +9 more
europepmc   +1 more source

Congenital Contractural Arachnodactylyの1症例

Congenital Contractural Arachnodactylyの1症例
openaire  

The clinical spectrum of congenital contractural arachnodactyly

Zeitschrift f�r Kinderheilkunde, 1974
A case of congenital contractural arachnodactyly with severe cardiovascular malformations is described. This case and two other reports of CCA with congenital heart disease from the literature indicate a wider spectrum of clinical manifestations in CCA than generally assumed.
E H, Lipson, C, Viseskul, J, Herrmann
exaly   +5 more sources

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Congenital contractural arachnodactyly.

Archives of Pediatrics & Adolescent Medicine, 1979
Sir .—I read with interest the article in theJournal(133:639-640, 1979) concerning congenital contractural arachnodactyly (CCA) as I have also studied a case diagnosed at birth. As a matter of record, the patient was born Oct 17, 1977, and was recognized at that time as having most of the features as described in the syndrome of CCA.
M. W. Bean
semanticscholar   +4 more sources