© 2003 BMJ Publishing Group & Royal College of Paediatrics and Child Health
Abstracts
Clinical genetics and pathology
| The first 150 words of the full text of this article appear below. |
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
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