(cubito-mammary syndrome)
Very rare. Autosomal dominant transmission of mutations of the TBX3 gene on 12q.
Association of:
- ulnar hypoplasia, the importance of which varies from hypoplasia of a phalanx to the absence of the arm and forearm.
- often incomplete hypoplasia of breast and axillary apocrine glands
- endocrine dysfunction: hypogonadism, obesity
- dental abnormalities: ectopies, hypoplasia, absence of canine teeth
- with other various malformations: laryngeal stenosis, anal stenosis, VSD, etc.
Anesthetic implications :
fragile teeth, difficult intubation.
Updated: September 2018