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A Schaller - One of the best experts on this subject based on the ideXlab platform.
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Prenatal diagnosis of osteogenesis imperfecta. Report of a case classified as the classical Vrolik lethal type
Ultraschall in der Medizin (Stuttgart Germany : 1980), 2008Co-Authors: K Chalubinski, H Plenk, A SchallerAbstract:Report on prenatal sonographic diagnosis of osteogenesis imperfecta of the classical type "letalis Vrolik" in the case of a fetus in the 20th/21st week of pregnancy. The prenatal diagnosis of this kind of osteogenesis imperfecta is based on the soft membranous cranium (Caput membranacium), the microthorax caused by the bell-shaped configuration of the ribs and the diaphysis of the long bones which are too short for the age of pregnancy. These symptoms are first of all the consequence of a disturbed bone formation and mineralisation; its basis is a connatal deficit of collagen synthesis. The sonographic differential diagnosis to the type "Ekman Lobstein" of osteogenesis imperfecta and Thanatophoric Dwarfism are discussed.
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Zur pränatalen Diagnostik der Osteogenesis imperfecta (Fortsetzung)
Ultraschall in Der Medizin, 2008Co-Authors: K Chalubinski, H. Plenk Jun, A SchallerAbstract:Bericht uber die pranatale Ultraschalldiagnose von Osteogenesis imperfecta des klassischen Typus letalis Vrolik bei einem Fetus in der 20./21. SSW. Die pranatale Diagnose dieser Art der Osteogenesis imperfecta basiert auf dem Caput membranaceum, dem durch die glockenformige Konfiguration der Rippen (-paare) bedingten Mikrothorax und den im Vergleich zum Schwangerschaftsalter zu kurzen Diaphysen der langen Rohrenknochen. Diese Symptome sind in erster Linie Ausdruck einer gestorten Knochenbildung und Mineralisation; ihre Grundlage ist ein konnatales Kollagensynthesedefizit. Die sonographische Differentialdiagnose gegenuber dem Typ Ekman-Lobstein der Osteogenesis imperfecta und dem thanatophoren Zwergwuchs wird diskutiert. Report on prenatal sonographic diagnosis of osteogenesis imperfecta of the classical type “letalis Vrolik” in the case of a fetus in the 20th/21 st week of pregnancy. The prenatal diagnosis of this kind of osteogenesis imperfecta is based on the soft membranous cranium (Caput membranacium), the microthorax caused by the bell-shaped configuration of the ribs and the diaphysis of the long bones which are too short for the age of pregnancy. These symptoms are first of all the consequence of a disturbed bone formation and mineralisation; its basis is a connatal deficit of collagen synthesis. The sonographic differential diagnosis to the type “Ekman Lobstein” of osteogenesis imperfecta and Thanatophoric Dwarfism are discussed.
P. Maroteaux - One of the best experts on this subject based on the ideXlab platform.
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common mutations in the fibroblast growth factor receptor 3 fgfr 3 gene account for achondroplasia hypochondroplasia and Thanatophoric Dwarfism
Clinical Pediatric Endocrinology, 1997Co-Authors: Jacky Bonaventure, F. Rousseau, Arnold Munnich, Laurence Legeaimallet, Le M Merrer, P. MaroteauxAbstract:The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene, has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: Thanatophoric Dwarfism (types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity as more than 98% of all patients hitherto reported, exhibited mutations in the transmembrane receptor domain. Although most of hypochondroplasia cases were accounted for by a recurrent missense substitution (N540K) in the first tyrosine kinase (TK 1) domain of the receptor, a significant proportion (40%) of our patients did not harbor the N540K mutation and three hypochondroplasia families were not linked to the FGFR-3 locus, thus supporting clinical heterogeneity of this disease. In Thanatophoric Dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor has been detected in 100% of TD II cases, while 7 distinct mutations in three different protein domains were identified in 25 out of 26 TD I patients, suggesting that TD, like achondroplasia is a genetically homogenous skeletal disorder.
R S Lachman - One of the best experts on this subject based on the ideXlab platform.
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Normal sonographic appearance of a Thanatophoric dwarf variant fetus at 13 weeks gestation.
AJR. American journal of roentgenology, 1991Co-Authors: M B Macken, E B Grantmyre, D L Rimoin, R S LachmanAbstract:The prenatal diagnosis of many types of short-limbed Dwarfism by real-time sonographic examination has been well documented [1 -4]. This report describes a fetus with a form of lethal, neonatal short-limbed Dwarfism (thanatophonic varant, San Diego type) whose limbs were normal in appearance and measurement on sonognaphy at 1 3 weeks gestational age. A variant of Thanatophoric Dwarfism was then diagnosed at 32 weeks gestational age when sonognaphic examination showed that the limbs were significantly shortened and the thorax was much reduced in size.
Jacky Bonaventure - One of the best experts on this subject based on the ideXlab platform.
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common mutations in the fibroblast growth factor receptor 3 fgfr 3 gene account for achondroplasia hypochondroplasia and Thanatophoric Dwarfism
Clinical Pediatric Endocrinology, 1997Co-Authors: Jacky Bonaventure, F. Rousseau, Arnold Munnich, Laurence Legeaimallet, Le M Merrer, P. MaroteauxAbstract:The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene, has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: Thanatophoric Dwarfism (types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity as more than 98% of all patients hitherto reported, exhibited mutations in the transmembrane receptor domain. Although most of hypochondroplasia cases were accounted for by a recurrent missense substitution (N540K) in the first tyrosine kinase (TK 1) domain of the receptor, a significant proportion (40%) of our patients did not harbor the N540K mutation and three hypochondroplasia families were not linked to the FGFR-3 locus, thus supporting clinical heterogeneity of this disease. In Thanatophoric Dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor has been detected in 100% of TD II cases, while 7 distinct mutations in three different protein domains were identified in 25 out of 26 TD I patients, suggesting that TD, like achondroplasia is a genetically homogenous skeletal disorder.
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Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and Thanatophoric Dwarfism.
American journal of medical genetics, 1996Co-Authors: Jacky Bonaventure, F. Rousseau, Laurence Legeai-mallet, M. Le Merrer, Arnold Munnich, Pierre MaroteauxAbstract:The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: Thanatophoric Dwarfism (types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity as more than 98% of all patients hitherto reported exhibit mutations in the transmembrane receptor domain. Although most hypochondroplasia cases were accounted for by a recurrent missense substitution (N540K) in the first tyrosine kinase (TK 1) domain of the receptor, a significant proportion (40%) of our patients did not harbor the N540K mutation and three hypochondroplasia families were not linked to the FGFR-3 locus, thus supporting clinical heterogeneity of this condition. In Thanatophoric Dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor was originally detected in 100% of TD II cases, our series seven distinct mutations in three different protein domains were identified in 25 of 26 TD I patients, suggesting that TD, like achondroplasia, is a genetically homogenous skeletal disorder.
K Chalubinski - One of the best experts on this subject based on the ideXlab platform.
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Prenatal diagnosis of osteogenesis imperfecta. Report of a case classified as the classical Vrolik lethal type
Ultraschall in der Medizin (Stuttgart Germany : 1980), 2008Co-Authors: K Chalubinski, H Plenk, A SchallerAbstract:Report on prenatal sonographic diagnosis of osteogenesis imperfecta of the classical type "letalis Vrolik" in the case of a fetus in the 20th/21st week of pregnancy. The prenatal diagnosis of this kind of osteogenesis imperfecta is based on the soft membranous cranium (Caput membranacium), the microthorax caused by the bell-shaped configuration of the ribs and the diaphysis of the long bones which are too short for the age of pregnancy. These symptoms are first of all the consequence of a disturbed bone formation and mineralisation; its basis is a connatal deficit of collagen synthesis. The sonographic differential diagnosis to the type "Ekman Lobstein" of osteogenesis imperfecta and Thanatophoric Dwarfism are discussed.
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Zur pränatalen Diagnostik der Osteogenesis imperfecta (Fortsetzung)
Ultraschall in Der Medizin, 2008Co-Authors: K Chalubinski, H. Plenk Jun, A SchallerAbstract:Bericht uber die pranatale Ultraschalldiagnose von Osteogenesis imperfecta des klassischen Typus letalis Vrolik bei einem Fetus in der 20./21. SSW. Die pranatale Diagnose dieser Art der Osteogenesis imperfecta basiert auf dem Caput membranaceum, dem durch die glockenformige Konfiguration der Rippen (-paare) bedingten Mikrothorax und den im Vergleich zum Schwangerschaftsalter zu kurzen Diaphysen der langen Rohrenknochen. Diese Symptome sind in erster Linie Ausdruck einer gestorten Knochenbildung und Mineralisation; ihre Grundlage ist ein konnatales Kollagensynthesedefizit. Die sonographische Differentialdiagnose gegenuber dem Typ Ekman-Lobstein der Osteogenesis imperfecta und dem thanatophoren Zwergwuchs wird diskutiert. Report on prenatal sonographic diagnosis of osteogenesis imperfecta of the classical type “letalis Vrolik” in the case of a fetus in the 20th/21 st week of pregnancy. The prenatal diagnosis of this kind of osteogenesis imperfecta is based on the soft membranous cranium (Caput membranacium), the microthorax caused by the bell-shaped configuration of the ribs and the diaphysis of the long bones which are too short for the age of pregnancy. These symptoms are first of all the consequence of a disturbed bone formation and mineralisation; its basis is a connatal deficit of collagen synthesis. The sonographic differential diagnosis to the type “Ekman Lobstein” of osteogenesis imperfecta and Thanatophoric Dwarfism are discussed.