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Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

par Pierquin, G;Seligmann, Roland;Van Regemorter, Nicole
Référence Genetic counseling, 3, 2, page (101-105)
Publication Publié, 1992

Article révisé par les pairs

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Résumé :

In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. We discuss the relationship between this combination of clinical signs and symptoms most compatible with the diagnosis of Summitt syndrome and the Carpenter syndrome.