BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Introduction: encodes an oligomeric BTB domain protein reported to inhibit neural crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation by TFAP2. Heterozygous missense variants in the closely related paralogue KCTD1 cause scalp-ear-nipple syndrome.

Methods: Exome sequencing was performed on a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease.

Total knee replacement survivorship by Design Philosophy: are we ignoring medial pivot design? Analysis based on the UK National Joint Registry.

The UK National Joint Registry(NJR) has not reported total knee replacement (TKR) survivorship based on design phi- losophy alone, unlike its international counterparts. We report outcomes of implant survivorship based on design phi- losophy using data from NJR's 2020 annual report. All TKR implants with an identifiable design philosophy from NJR data were included.

Chiari Malformation Presenting as Headaches Associated with Laughter.

Presentation We describe the case of a 5 year old boy, referred to our outpatient department with a one year history of headaches associated with laughter. Diagnosis Investigation with MRI Brain revealed Chiari Type 1 Malformation (CM-1), with cerebellar tonsillar descent of 19mm below the foramen magnum. Treatment He is being managed conservatively with serial neuroimaging and symptom monitoring.