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Archives of Disease in Childhood Mar 1977
Topics: Achondroplasia; Humans; Infant
PubMed: 849009
DOI: 10.1136/adc.52.3.253 -
Pediatrics Jun 1973
Topics: Bone and Bones; Cartilage; Humans; Infant, Newborn; Infant, Newborn, Diseases; Limb Deformities, Congenital; Male; Osteogenesis Imperfecta; Syndrome
PubMed: 4710446
DOI: No ID Found -
Indian Pediatrics Jun 1985
Topics: Dwarfism; Female; Humans; Male; Pregnancy
PubMed: 3835151
DOI: No ID Found -
RoFo : Fortschritte Auf Dem Gebiete Der... Oct 1977Achondrogenesis is a rare form of lethal dwarfism. Usually discovered post partum, in a few instances only it has been diagnosed in utero. One such a case is here...
Achondrogenesis is a rare form of lethal dwarfism. Usually discovered post partum, in a few instances only it has been diagnosed in utero. One such a case is here presented together with differential diagnosis with other forms of lethal dwarfism.
Topics: Achondroplasia; Dwarfism; Epiphyses; Female; Femur; Fetal Diseases; Fetus; Humans; Infant, Newborn; Pregnancy; Radiography
PubMed: 144655
DOI: 10.1055/s-0029-1230713 -
Pediatric Radiology 1988
Topics: Dwarfism; Enchondromatosis; Female; Humans; Infant, Newborn; Osteochondrodysplasias; Radiography
PubMed: 3222064
DOI: 10.1007/BF02388414 -
Clinical Genetics 1972
Topics: Achondroplasia; Autopsy; Bone and Bones; Bronchi; Cartilage; Dwarfism; Female; Fetal Death; Fractures, Spontaneous; Gestational Age; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Polyhydramnios; Pregnancy; Pregnancy Complications; Radiography
PubMed: 4568361
DOI: 10.1111/j.1399-0004.1972.tb01477.x -
Cirugia Y Cirujanos 2019
Topics: Alleles; Collagen Type X; Diagnosis, Differential; Humans; Osteochondrodysplasias
PubMed: 31448791
DOI: 10.24875/CIRU.18000889 -
Frontiers in Bioscience : a Journal and... Jan 2005Skeletal dysplasias represent in vivo models of genetic defects. Achondrogenesis type II (Langer-Saldino), caused by a genetic defect in the major cartilage matrix... (Review)
Review
Skeletal dysplasias represent in vivo models of genetic defects. Achondrogenesis type II (Langer-Saldino), caused by a genetic defect in the major cartilage matrix protein, collagen type II, is a rare and severe skeletal dysplasia. It comprises a severe derangement of the fetal growth plate cartilage with subsequent ossification defects. In this study, we analyzed the matrix composition and cell differentiation pattern in 3 relatives with achondrogenesis type II. Most strikingly we found a strongly reduced collagen type II and moderately reduced aggrecan proteoglycan content in the dysplastic cartilage matrix. Type II collagen is, at least to some extent, replaced by collagens type I III, and VI. Ultrastructural analysis of the dysplastic cartilage matrix demonstrated a distended rER (rough endoplasmic reticulum), which is typical for this condition and most likely related to improper processing and retention of genetically altered type II collagen. Immunostaining for type IIA and X collagens suggest a severe delay in chondrocyte maturation. Thus, the genetic defect in the present cases leads most likely to a severe retention of collagen type II in the rER and, therefore, a strongly reduced collagen deposition and replacement by other interstitial collagens. However, the latter are less efficient in binding aggrecan proteoglycans in the dysplastic cartilage matrix. Additionally, a delay in chondrocyte maturation appears to be important in achondrogenesis type II.
Topics: Aggrecans; Animals; Cartilage; Cell Differentiation; Chondrocytes; Chondroitin Sulfate Proteoglycans; Collagen; Extracellular Matrix Proteins; Humans; Lectins, C-Type; Osteochondrodysplasias; Phenotype; S100 Proteins
PubMed: 15574381
DOI: 10.2741/1540 -
Cirugia Y Cirujanos 2019Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops,...
BACKGROUND
Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).
CLINICAL CASE
A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported.
CONCLUSIONS
therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.
Topics: Achondroplasia; Female; Germ-Line Mutation; Humans; Infant, Newborn; Pedigree; Phenotype
PubMed: 30951048
DOI: 10.24875/CIRUE.M18000013 -
American Journal of Medical Genetics 1981We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally. Radiographic and morphologic... (Review)
Review
We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally. Radiographic and morphologic characteristics identified the Langer-Saldino form of achondrogenesis (type II). Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gestation period, larger size of the baby, longer limbs, and characteristic craniofacial features) as compared with type I achondrogenesis (Parenti-Fraccaro).
Topics: Abnormalities, Multiple; Chromosomes; Dwarfism; Genes, Lethal; Genes, Recessive; Humans; Infant, Newborn; Karyotyping; Male; Phenotype
PubMed: 7036745
DOI: 10.1002/ajmg.1320100411