Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype |
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| Authors: | D. Bonneau J. L. Huret G. Godeau D. Couet M. Putterman J. Tanzer P. Babin M. Larrègue |
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| Affiliation: | (1) Pédiatrie Génétique, CHU La Milétrie, Poitiers, France;(2) Cytogénétique, Hématologie, URA CNRS 1338, Poitiers, France;(3) Anatomo-Pathologie et Microscopie Electronique, Poitiers, France;(4) Dermatologie, CHU, F-86021 Poitiers, France;(5) URA CNRS 1174, CHU, F-94010 Créteil, France;(6) Anatomo-Pathologie, CHU Necker-Enfants Malades, F-75730 Paris, France |
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| Abstract: | Summary A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease. |
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