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Clinical Symposia (Summit, N.J. : 1957) 1988
Review
Topics: Child; Child, Preschool; Diagnosis, Differential; Dwarfism; Female; Humans; Infant; Infant, Newborn; Male
PubMed: 3286100
DOI: No ID Found -
Current Opinion in Endocrinology,... Feb 2015To review the recent advances in the clinical and molecular characterization of primordial dwarfism, an extreme growth deficiency disorder that has its onset during... (Review)
Review
PURPOSE OF REVIEW
To review the recent advances in the clinical and molecular characterization of primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life.
RECENT FINDINGS
The last decade has witnessed an unprecedented acceleration in the discovery of genes mutated in primordial dwarfism, from one gene to more than a dozen genes. These genetic discoveries have confirmed the notion that primordial dwarfism is caused by defects in basic cellular processes, most notably centriolar biology and DNA damage response. Fortunately, the increasing number of reported clinical primordial dwarfism subtypes has been accompanied by more accurate molecular classification.
SUMMARY
Qualitative defects of centrioles with resulting abnormal mitosis dynamics, reduced proliferation, and increased apoptosis represent the predominant molecular pathogenic mechanism in primordial dwarfism. Impaired DNA damage response is another important mechanism, which we now know is not mutually exclusive to abnormal centrioles. Molecular characterization of primordial dwarfism is helping families by enabling more reproductive choices and may pave the way for the future development of therapeutics.
Topics: Cell Proliferation; Dwarfism; Facies; Genome-Wide Association Study; Humans; Microcephaly; Mutation; Practice Guidelines as Topic
PubMed: 25490023
DOI: 10.1097/MED.0000000000000121 -
Indian Journal of Pediatrics Jan 1968
Topics: Dwarfism; Humans
PubMed: 5654729
DOI: 10.1007/BF02752992 -
Lancet (London, England) Jan 1991
Topics: Dwarfism; Female; Humans; Insulin-Like Growth Factor I
PubMed: 1670793
DOI: No ID Found -
The Journal of Bone and Joint Surgery.... Aug 1976A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate...
A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate dwarfism, limb deformity, a short stiff neck, and marked thoracic kyphosis. The radiographic changes were dramatic, the skeleton having a "flocky" appearance due to patches of radiolucency in an irregular lattice of sclerosis. The metaphyses and epiphyses of the long bones were grossly expanded, and the vertebrae were flattened and distorted. The clinical and radiographic features of five other previously reported individuals with parastremmatic dwarfism were very similar to those of our patient. The differential diagnosis of this condition includes metatrophic dwarfism, diatrophic dwarfism and the spondylo-epiphysial dysplasias. However, the unique "flocky" radiographic appearance of the bones permits diagnostic precision. There is some evidence to indicate that parastremmatic dwarfism might be transmitted as an autosomal dominant, although this is by no means certain. The fact that our patient had seven normal siblings and unaffected parents would be compatible woth autosomal recessive inheritance.
Topics: Bone Diseases, Developmental; Child; Diagnosis, Differential; Dwarfism; Female; Humans; Radiography
PubMed: 956253
DOI: 10.1302/0301-620X.58B3.956253 -
Lancet (London, England) May 1972
Topics: Autopsy; Dwarfism; Female; Humans; Infant, Newborn; Karyotyping; Radiography; Respiratory Distress Syndrome, Newborn; Tibia
PubMed: 4112203
DOI: 10.1016/s0140-6736(72)91246-9 -
Birth Defects Original Article Series 1975The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a... (Review)
Review
The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. There is delayed calcification of the epiphyses and delayed mineralization of the spine and pelvis. The cartilages of the tracheobronchial tree are hypoplastic, contributing to death from respiratory problems. Other associated abnormalities are unusual appearing facies, cleft palate, absent olfactory nerves and talipes equinovarus. Less commonly seen are cardiac, renal and brain anomalies.
Topics: Adult; Arm; Bone Diseases; Child; Child, Preschool; Dwarfism; Face; Female; Humans; Infant; Infant, Newborn; Leg; Male; Radiography; Syndrome
PubMed: 1103991
DOI: No ID Found -
Journal of Bone and Mineral Metabolism 2009
Review
Topics: Body Patterning; Bone Development; Dwarfism; Humans; Mutation; Receptor, Fibroblast Growth Factor, Type 3; Signal Transduction
PubMed: 19066716
DOI: 10.1007/s00774-008-0009-7 -
Genes Mar 2023The identification of the dwarf phenotype in chicken is based on body weight, height, and shank length, leaving the differentiation between dwarf and small breeds...
The identification of the dwarf phenotype in chicken is based on body weight, height, and shank length, leaving the differentiation between dwarf and small breeds ambiguous. The aims of the present study were to characterize the sequence variations associated with the dwarf phenotype in three Italian chicken breeds and to investigate the genes associated with their phenotype. Five hundred and forty-one chickens from 23 local breeds (from 20 to 24 animals per breed) were sampled. All animals were genotyped with the 600 K chicken SNP array. Three breeds were described as "dwarf", namely, Mericanel della Brianza (MERI), Mugellese (MUG), and Pepoi (PPP). We compared MERI, MUG, and PPP with the four heaviest breeds in the dataset by performing genome-wide association studies. Results showed significant SNPs associated with dwarfism in the MERI and MUG breeds, which shared a candidate genomic region on chromosome 1. Due to this similarity, MERI and MUG were analyzed together as a meta-population, observing significant SNPs in the and genes, which were previously reported as being responsible for dwarfism in different species. In conclusion, MERI and MUG breeds seem to share a genetic basis of dwarfism, which differentiates them from the small PPP breed.
Topics: Animals; Chickens; Genome-Wide Association Study; Genomics; Italy; Dwarfism
PubMed: 36980905
DOI: 10.3390/genes14030633 -
Nihon Rinsho. Japanese Journal of... May 2006
Review
Topics: Body Height; Child; Diagnosis, Differential; Dwarfism; Failure to Thrive; Humans; Mother-Child Relations; Prognosis; Psychosocial Deprivation; Syndrome
PubMed: 16776104
DOI: No ID Found