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[Type V acrocephalosyndactylia (Pfeiffer's syndrome). Apropos of 3 cases in the same family].

We report 3 cases of acrocephalosyndactyly V (Pfeiffer syndrome) in the same family. This syndrome is characterized by coronal craniosynostosis with facial dysmorphism and specific malformations of the extremities (wide stubly adducted thumbs). The pattern of inheritance in autosomal dominant. The place of this syndrome is discussed in the group of disorders associated with acrocephalopolysyndactyly.

Abnormalities, Multiple↗
PubMed1985

[Acrocephalosyndactylia--Vogt syndrome].

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. Investigation of the familial background revealed the presence of malformations in other members of the family, such as malformation of the extremities and acrocephalus. On the other hand, the father's age of 63 years was considerably higher than that of fathers in the average population, so that the possibility of a new mutation had to be considered. The fact that the mother suffered an attack of influenza during pregnancy, finally, brought the possibility of peristatic influences being involved in the complex malformations.

Acrocephalosyndactylia↗
PubMed1979

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

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.

Acrocephalosyndactylia↗