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Clinical genetics and pathology

G112. PATERNAL UPD14 ASSOCIATED WITH CONGENITAL CUTIS LAXA
L.M. Cornette, A.B. Gill, D. Martinez, C. Hall, C.P. Bennett, C.J. Cullinane, S.M. Clark, D.W. Beverley, J.F. Harvey, D.T. Bonthron.

Leeds General Infirmary, Department of Paediatrics, Leeds

We present the case of a male infant, born at 30 weeks GA, with facial dysmorphism (short palpebral fissures, protruding philtrum), bell-shaped thorax, extremely loose skin, large abdominal and bilateral inguinal hernias. Karyotype was normal. Defective elastin fibre formation observed on skin biopsy confirmed the clinical diagnosis of Cutis Laxa. A skeletal survey also revealed a narrow thorax with coat-hanger appearance of the ribs, short femurs and generalised osteopenia. So far, such skeletal dysplasia has not been reported in Cutis Laxa. Very recently, however, a new distinctive malformation complex due to paternal uniparental disomy of chromosome 14 (patUPD14) has been recognized in three patients, involving a strikingly similar constellation of thoracic hypoplasia, abdominal muscular defects and dysmorphic facies (Kurosawa et al. Am J . . . [Full text of this article]