1976
DOI: 10.1097/00003086-197601000-00006
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The Lethal Chondrodysplasias

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Cited by 18 publications
(11 citation statements)
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“…I (SE) x mutations per gene per generation, which is similar to other reported mutation rates in man. Furthermore, evidence for autosomal dominant inheritance is provided by the four sets of condordant MZ twins [Maroteaux et al, 1976;Sato et al, 1981;Horton et al, 1983;Serville et al, 19841. With more than 70 typical cases reported, the only documented recurrence was described by Maroteaux et a1 [ 19761. Gonadal mosaicism, recurrent mutation, or heterogeneity might be invoked.…”
Section: Discussionmentioning
confidence: 99%
“…I (SE) x mutations per gene per generation, which is similar to other reported mutation rates in man. Furthermore, evidence for autosomal dominant inheritance is provided by the four sets of condordant MZ twins [Maroteaux et al, 1976;Sato et al, 1981;Horton et al, 1983;Serville et al, 19841. With more than 70 typical cases reported, the only documented recurrence was described by Maroteaux et a1 [ 19761. Gonadal mosaicism, recurrent mutation, or heterogeneity might be invoked.…”
Section: Discussionmentioning
confidence: 99%
“…X-rays confirmed the shortness of the long bones and showed a lack of ossification of the pubis area as well as of the vertebral bodies:, these findings are typical of type II achondrogenesis. Histological sections of the growth cartilage disclosed lesions similar * Corresponding author to those found in type II achondrogenesis (Maroteaux et al 1976;Stanescu et al 1977). The chondrocytes contained abnormal inclusions staining with 0.red oil.…”
mentioning
confidence: 60%
“…A few cases of thanato phoric dwarfism have been reported in multiple pregnan cy. Maroteaux et al [9] and Sato et al [10] each reported thanatophoric dwarfism in identical twins. Keats et al [11] reported 1 case of fraternal twins with thanatophoric dwarfism.…”
Section: Discussionmentioning
confidence: 97%