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Acrocephalosyndactylia: Pfeiffer's syndrome

open access: yes
Femiano F., Laino G., Serpico R.
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Acrocephalosyndactylia Associated With a Chromosomal Translocation

open access: yesAmerican Journal of Diseases of Children, 1970
An infant with typical acrocephalosyndactylia was found to have a consistently present deletion-translocation of the short arms of chromosome 2 to the long arms of one of the chromosomes in the 11-12 group, a karyotype of 46,XX,t (2p−; Cq+). This patient brings the total reported number of abnormal karyotypes in ACS to four of the 24 patients studied ...
W E, Dodson   +3 more
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[Acrocephalosyndactylia--Vogt syndrome].

Psychiatrie, Neurologie, und medizinische Psychologie, 1985
A genetically remarkable case of the Vogt syndrome (combination of the Apert and Crouzon syndromes) associated with a dysraphia syndrome is described. Clinically, malformations corresponding to the Apert syndrome were prominent, and radiological examination of the skull revealed a prominent Crouzon syndrome.
P, Fehlow, F, Walther
openaire   +1 more source

[The Apert syndrome (acrocephalosyndactylia). A case study].

Fortschritte der Medizin, 1979
In a patient of our hospital, who underwent surgery twice, a typical case of Apert-syndrome was diagnosed. Esophageal dilatation and diverticulum was found, which led to regurgitation during the induction of anesthesia. The association of the esophageal deformity with the Apert-syndrome is discussed.
W, Flerow, F, Szamak
openaire   +1 more source

[ACROCEPHALOSYNDACTYLIA].

Orvosi hetilap, 1996
J, FORRAI, J, ZOLTAN
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[Acrocephalosyndactylia (Apert's syndrome].

Archivos de oftalmologia de Buenos Aires, 1969
L F, Mogort   +3 more
openaire   +3 more sources

[Acrocephalosyndactylia: Pfeiffer's syndrome].

Archivio stomatologico, 1987
FEMIANO, Felice   +2 more
openaire   +2 more sources

[Apert's syndrome (acrocephalosyndactylia].

Orvosi hetilap, 1974
F, Ruppert   +3 more
openaire   +1 more source

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