A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive.

Augmentation gluteoplasty with dermal-fat autografting from the lower abdomen.

Background: Although the use of dermal-fat grafts (adipose tissue grafted with the inclusion of dermis) is an established technique in plastic surgery, to our knowledge, the technique has not been utilized in the gluteal region.

Objective: The authors examined the use of dermal-fat grafts taken from the lower abdomen for gluteal augmentation.

Methods: A novel surgical instrument, composed of a cannula and "crochet-hook"-like thread-puller, was developed especially for introduction of dermal-fat grafts.