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Results for “Acrocephalosyndactylia”

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At least 19 recordsLinked to original sources
PubMed1986

[Corrective craniofacial surgery in the acrocephalosyndactylia syndrome (Saethre-Chotzen syndrome)].

The possibility of plastic surgery in acrocephalosyndactylia syndrome during infancy is shown. Due to her main signs and symptoms and the mode of inheritance the patient suffered from an acrocephalosyndactylia syndrome type III (Saethre-Chotzen). Craniofacial surgery with frontal craniotomy, turn of frontal bone and frontal orbital advancement were performed at the age of eight months, using bone plates developed by Luhr. The reconstruction gave an aesthetically satisfactory result, and further development was normal. The condition for a good result is the cooperation between plastic surgeons, neurosurgeons, anaesthesiologists and paediatricians in specialised centres.

Acrocephalosyndactylia↗
PubMedDate not supplied

[Type-III acrocephalosyndactylia (Saethre-Chotzen syndrome). Description of 2 cases].

The acrocephalosyndactylia III is a syndrome, which follows an autosomal dominant mode of inheritance, characterized by premature fusion of the cranial sutures in association with mild cutaneous syndactyly. The authors describe two cases recently come to their observation and point out the usefulness of the imaging diagnostics (CT, MRI) in finding anomalies specific of this affection.

Acrocephalosyndactylia↗
PubMedDate not supplied

[Genetic counseling of acrocephalosyndactylia].

The present paper describes a case with clinical and radiological characteristics of Apert's syndrome. He was the first offspring from second cousins marriage. We considered that in this case, consanguinity is an associated feature. Perhaps this case may be the third one reported in the literature with consanguineous parents. We comment the different classifications of the acrocephalosyndactylias for genetic counseling purposes.

Acrocephalosyndactylia↗