title: Ultrastructural investigation of Zimmermann-Laband syndrome.
abstract: Zimmermann-Laband syndrome (ZLS) is a very rare autosomal dominant inherited condition characterized by 3 major clinical findings of which gingival hyperplasia are always present. The great heterogenicity of the syndrome is illustrated by the numerous variable clinical findings described in the literature. The purpose of the study was to examine a patient diagnosed with ZLS and to describe possible new characteristics of this rare syndrome, including the ultrastructural morphology using a transmission electron microscope (TEM) of the gingival and dermal fibroblasts. The ultrastrucutral morphology as has not previously been described in the literature. Tissue was collected from the alveolar ridge and skin of the forearm for TEM. TEM studies indicated the presence of prominent fibroblasts situated among numerous regular dense connective tissue bundles. Genetic analysis showed a new chromosomal insertion, ins(12;8)(p11.2;q11.2q24.3), suggesting that the gene responsible for the syndrome lies on chromosome 8.
authors.affiliation: Department of Oral and Maxillofacial Surgery, University of Pretoria, Pretoria, South Africa.
authors.forename: C F
authors.initials: CF
authors.lastname: Hoogendijk
authors.forename: J
authors.initials: J
authors.lastname: Marx
authors.forename: E M
authors.initials: EM
authors.lastname: Honey
authors.forename: E
authors.initials: E
authors.lastname: Pretorius
authors.forename: A L
authors.initials: AL
authors.lastname: Christianson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000648:ultrastructure*; D002648:Child; D002869:Chromosome Aberrations; D005347:Fibroblasts / Q000648:ultrastructure*; D005385:Fingers / Q000002:abnormalities; D005885:Gingival Hyperplasia / Q000235:genetics* / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D046529:Microscopy, Electron, Transmission; D009264:Nails, Malformed / Q000151:congenital; D012867:Skin / Q000648:ultrastructure