Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes
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چکیده
منابع مشابه
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.
It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochond...
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Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight...
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Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order to clarify the differences between the two disorders and establish the height, body proportions and other clinical and radiological variations within each group. Some of the "classical" findings in achondroplasia are not always present, and hypochondroplasia at its most severe is indistinguishable...
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Angular deformities of the lower limbs are a common clinical problem encountered in pediatric orthopaedic practices particularly in patients with osteochondrodysplasias. The varus deformity is more common than the valgus deformity in achondroplasia and hypochondroplasia patients because of the unusual growth of the fibulae than that of the tibiae. We retrospectively reviewed six patients (four ...
متن کاملNeurological symptoms, evaluation and treatment in Danish patients with achondroplasia and hypochondroplasia
Neurological symptoms, evaluation and treatment in Danish patients with achondroplasia and hypochondroplasia Mia Aagaard Doherty1,2*, Niels Thomas Hertel3, Hanne Buciek Hove4 and Annette Haagerup1,2,5* 1NIDO|Danmark, Hospitalsenheden Vest RM, Denmark 2Centre for Rare Diseases, Department of Paediatrics, Aarhus University Hospital, Denmark 3Department of Paediatrics, H.C. Andersen Children’s Hos...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1973
ISSN: 1468-6244
DOI: 10.1136/jmg.10.1.11