Clinical Genetics · 1973 · 14 citations · 10 references
MedicineGeneticsPediatricsHuman GeneticsPediatric AudiologyPediatric GeneticsBone DysplasiasCongenital Musculoskeletal DisordersDysplasiaHearing ImpairmentHearing LossSkeletal DysplasiasAutosomal Recessive InheritanceDevelopmental MyopiaDizygotic TwinsFamilial MyopiaMonozygotic TwinsSyndromic Hearing Loss
Three brothers, two of them monozygous twins, had epiphyseal dysplasia particularly of the femoral head, a high degree of myopia, and perceptive hearing loss. The parents were related. The disorder may be a rare autosomal recessive condition.
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DYSPLASIA SPONDYLOEPIPHYSARIA CONGENITA
J Spranger, H. ‐R. Wiedemann · The Lancet · 1966 · 50 citations
Dysplasia spondyloepiphysaria congenital
J Spranger · Helvetica paediatrica acta · 1966 · 39 citations
HEREDITARY LEGG-CALVE-PERTHES' DISEASE
F. E. Stephens, James P. Kerby · Journal of Heredity · 1946 · 28 citations
Multiple Epiphyseal Dysplasia in Two Siblings
D. D. HUNT, Ignacio V. Ponseti, A. Pedrini‐Mille et al. · Journal of Bone and Joint Surgery · 1967 · 25 citations