The Lethal Chondrodysplasias

Maroteaux, P; Stănescu,; Stănescu, R

doi:10.1097/00003086-197601000-00006

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%

Lethal neonatal chondrodysplasias in the west of scotland 1970–1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, glasgow variant

Connor¹,

Connor

Sweet

et al. 1985

Am. J. Med. Genet.

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Complete ascertainment of lethal neonatal short-limb chondrodysplasias was attempted in the West of Scotland for the period 1970-1983. Forty-three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well-delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 +/- 4.1 X 10(-6) mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata-second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition).

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Section: Discussionmentioning

confidence: 99%

Lethal neonatal chondrodysplasias in the west of scotland 1970–1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, glasgow variant

Connor¹,

Connor

Sweet

et al. 1985

Am. J. Med. Genet.

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“…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.…”

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confidence: 60%

Normal lipid composition of fibroblasts from a case of type II achondrogenesis

Lous

Hors-Cayla

Hendrickx³

et al. 1980

Eur J Pediatr

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Fibroblasts from a case of achondrogenesis type II and fibroblasts from a normal control donor were subcultivated in vitro in parallel. The lipid study on these cells showed similar total lipid content, free cholesterol level, phospholipid distribution and fatty acid patterns, while neutral glycerides were slightly more elevated in the control fibroblasts. The histological finding of Laxova et al. (1973) could not be confirmed.

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“…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%

Infant with Thanatophoric Dwarfism in Triplet Pregnancy

Oga

Takai²,

Yoshimatsu³

et al. 1995

Gynecol Obstet Invest

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The case of a Japanese female infant with thanatophoric dwarfism, a triplet, is reported. The diagnosis was made at 18 weeks’ gestation. Triplets were delivered at 30 weeks’ gestation by cesarean section. Two infants, both males, were normal; the female with dwarfism died of respiratory distress 34 min after delivery. This is the first known case of one fraternal triplet being affected by thanatophoric dwarfism.

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The Lethal Chondrodysplasias

Cited by 18 publications

References 0 publications

Lethal neonatal chondrodysplasias in the west of scotland 1970–1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, glasgow variant

Lethal neonatal chondrodysplasias in the west of scotland 1970–1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, glasgow variant

Normal lipid composition of fibroblasts from a case of type II achondrogenesis

Infant with Thanatophoric Dwarfism in Triplet Pregnancy

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