Journal of Medical Genetics · 1971 · 41 citations · 8 references
Life SciencesGeneticsPediatricsHuman GeneticsMedical GeneticsPediatric GeneticsDysplasiaGenetic DisordersGenetic SyndromesGenetics Of Growth DisordersPedigree AnalysisSkeletal DysplasiasAutosomal Recessive InheritanceFamilial Inheritance PatternsInherited Disorder PedigreesRecessive Inheritance ModelsShort Stature GeneticsSpondyloepimetaphyseal DysplasiaX-linked Linkage AnalysisX-linked Recessive Inheritance
The syndrome of short stature inherited as an X-linked recessive trait was first reported by Jacobsen (1939) who described one family under the title 'hereditary osteochondrodystrophia defor- mans'. Three more pedigrees were studied by Maroteaux, Lamy, and Bernard (1957), who pro- posed the name dysplasia spondyloepiphysaire tardive, or spondyloepiphyseal dysplasia tarda (SDT). These authors also drew attention to earlier description by Nilsonne (1927) and Volhard and von Drigalski (1937) of two sibships, each with three affected brothers. Other pedigrees have been reported by Barber (1960) and Langer (1964), and Hobaek's monograph (1961) includes at least one pedigree (family 13) which appears to fit the criteria for this syndrome. These may be listed as follows:
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The National Foundation ‐ March of Dimes
A. Salisbury · Clinical Genetics · 1974 · 104 citations
Spondyloepiphysial Dysplasia Tarda
Leonard O. Langer · Radiology · 1964 · 65 citations
Medicine, Genetics, Pediatrics +17