Clinical and genetic heterogeneity of Seckel syndrome

Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Rec...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 112; no. 4; p. 379
Main Authors Faivre, L, Le Merrer, M, Lyonnet, S, Plauchu, H, Dagoneau, N, Campos-Xavier, A B, Attia-Sobol, J, Verloes, A, Munnich, A, Cormier-Daire, V
Format Journal Article
LanguageEnglish
Published United States 01.11.2002
Subjects
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adolescent
Adult
Child
Chromosome Mapping
Consanguinity
Family Health
Female
Genetic Heterogeneity
Genetic Predisposition to Disease - genetics
Growth Disorders - pathology
Humans
Intellectual Disability - pathology
Male
Microcephaly - pathology
Microsatellite Repeats
Middle Aged
Pedigree
Syndrome
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Summary:Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition.
ISSN:0148-7299
DOI:10.1002/ajmg.10677