Baller-Gerold, syndrome
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(craniosynostosis - radial aplasia syndrome )
Very rare. Due to homozygous or compound heterozygous mutations of the RECQL4 gene (8q24.3) in 65 % of cases. This gene codes for the RecQ-helicases, involved in replication, recombination, and DNA repair.
Association of:
- craniosynostosis that may involve one or more sutures,.
- limb anomalies: aplasia or hypoplasia of the radius of the thumb, carpal or metacarpal bone
- craniofacial anomalies: micrognathia, ocular proptosis, epicanthus
- growth retardation (-4 SD of the average of the population)
- urogenital anomalies: imperforate anus or anal malposition, cloaca, urinary malformations.
More rarely: cleft palate (or bifid uvula), vertebral anomalies, cardiac malformation (tetralogy of Fallot, subaortic stenosis, VSD). Sometimes poikiloderma after a few months of life.
Evolution: risk of unexpected death during the first year of life. Frequent mental retardation.
Anesthetic implications:
risk of difficult intubation; difficult venous access; short stature; echocardiography.
Updated: November 2019