Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

Objective: Acrocallosal syndrome (ACLS) is a rare genetically heterogeneous disorder characterised by a variety of developmental anomalies including agenesis or hypoplasia of the corpus callosum. ACLS and the related disorder, hydrolethalus syndrome, have recently been reported to be caused by mutations in the KIF7 gene. In the present study we report a 15 year follow up of a consanguineous family with ACLS and the results of exome sequencing.

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living in Southern Israel, five individuals affected by autosomal recessive WZS were available for genetic analysis.

Pelvis-shoulder dysplasia.

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis. We present the long-term follow-up of a patient with this condition. This patient has severe pelvic dysplasia but no involvement of the scapulae or clavicles.

Cytogenetic analysis of fetal chondrocytes: a comparative study.

Progress in the prevention and prenatal detection of birth defects has led to a relative increase in the number of interruption of pregnancies associated with chromosomal abnormalities. There is an inverse relationship between the rate of success of fetal cell cultures and the interval between fetal demise and the initiation of culture. This report describes the cytogenetic analyses of cultured fetal chondrocytes compared with tissue cultures of fetal skin, fetal membranes, and placenta.