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Journal of Medical Genetics Nov 1996
Review
Topics: Achondroplasia; Anion Transport Proteins; Carrier Proteins; Cartilage; Diagnosis, Differential; Female; Genetic Counseling; Humans; Infant, Newborn; Male; Membrane Transport Proteins; Pregnancy; Prenatal Diagnosis; Sulfate Transporters; Ultrasonography, Prenatal
PubMed: 8950678
DOI: 10.1136/jmg.33.11.957 -
The Journal of Pediatrics Jan 1988Achondrogenesis has traditionally been divided into type I (Parenti-Fraccaro) and type II (Langer-Saldino). We studied the clinical, radiologic, and morphologic features... (Review)
Review
Achondrogenesis has traditionally been divided into type I (Parenti-Fraccaro) and type II (Langer-Saldino). We studied the clinical, radiologic, and morphologic features of 17 cases previously diagnosed as achondrogenesis type I to define whether there is even further heterogeneity. On radiographic analysis, two distinct groups of patients were defined based on the presence or absence of rib fractures and ossification of the vertebral pedicles, ischium, and fibula. Two distinct chondroosseous morphologic patterns were observed that directly correlated with the radiographic grouping. One group had round vacuolated chondrocytes with inclusion bodies; the other had collagenous rings around the chondrocytes. We conclude that achondrogenesis type I (Parenti-Fraccaro) consists of two distinct disorders: type IA, which corresponds to the cases originally published by Houston et al. and Harris et al., and type IB, which corresponds to the case originally published by Fraccaro. Analysis of Parenti's case suggests the diagnosis of achondrogenesis type II. All three types of achondrogenesis appear to be inherited as autosomal recessive traits.
Topics: Enchondromatosis; Female; Humans; Infant, Newborn; Male; Osteochondrodysplasias; Phenotype; Radiography
PubMed: 3275766
DOI: 10.1016/s0022-3476(88)80113-6 -
Pediatric and Developmental Pathology :... 2007In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with...
In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with achondrogenesis type IA. The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias.
Topics: Cartilage; Chondrocytes; Chondrogenesis; DNA Mutational Analysis; Humans; Mutation; Osteochondrodysplasias; Osteogenesis Imperfecta; Thanatophoric Dysplasia
PubMed: 17638434
DOI: 10.2350/07-01-0216.1 -
Balkan Journal of Medical Genetics :... Jun 2019Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as...
Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. This study contributes to the literature by presenting a patient who was admitted to the Level ΙΙΙ Neonatal Intensive Care Unit (NICU), Bursa, Turkey), with extremely short extremities, a small chest, abdominal distention and respiratory distress, who was diagnosed with ACG2. On the gene, genetic analysis with next generation sequencing (NGS), was revealed to have a heterozygous missense variation, c.2546G>A, p.Gly849Asp mutation, which is a different genetic variant that has not been previously described in the literature.
PubMed: 31523626
DOI: 10.2478/bjmg-2019-0001 -
Irish Journal of Medical Science Nov 1978
Topics: Dwarfism; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Northern Ireland; Pregnancy; Radiography
PubMed: 721399
DOI: 10.1007/BF02939440 -
Indian Pediatrics Sep 1981
Topics: Abnormalities, Multiple; Dwarfism; Female; Humans; Infant, Newborn; Limb Deformities, Congenital
PubMed: 7319620
DOI: No ID Found -
The New England Journal of Medicine Jan 2010
Topics: Animals; Chondrocytes; Codon, Nonsense; Cytoskeletal Proteins; Endoplasmic Reticulum; Genes, Recessive; Glycosylation; Golgi Apparatus; Humans; Mice; Mice, Transgenic; Nuclear Proteins; Osteochondrodysplasias; Phenotype; Protein Processing, Post-Translational
PubMed: 20089978
DOI: 10.1056/NEJMe0911455 -
Advances in Clinical and Experimental... Jun 2021Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias... (Review)
Review
Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, severe femoral shortening, and decreased lung volume. Individual lethal or life-limiting dysplasias may have more or less specific features on prenatal ultrasound. The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed.
Topics: Female; Humans; Infant, Newborn; Osteochondrodysplasias; Osteogenesis Imperfecta; Pregnancy; Receptor, Fibroblast Growth Factor, Type 3; Thanatophoric Dysplasia; Ultrasonography, Prenatal
PubMed: 34019743
DOI: 10.17219/acem/134166