Hypochondroplasia - GeneReviews® - NCBI Bookshelf
1999年7月15日 · Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly.
Hypochondroplasia - PubMed
2020年5月7日 · Identification of a heterozygous FGFR3 pathogenic variant known to be associated with hypochondroplasia can confirm the diagnosis and help distinguish hypochondroplasia from achondroplasia and other related skeletal dysplasias in individuals with overlapping phenotypes.
Hypochondroplasia Dwarfism: Symptoms, Causes & Outlook - Cleveland Clinic
For hypochondroplasia, a genetic change prevents cartilage from turning into bone (ossification) in the long bones in your arms and legs. Physical characteristics of the condition include short stature, bowed legs and broad hands and feet along with a larger head size.
Hypochondroplasia - an overview | ScienceDirect Topics
Hypochondroplasia is an allelic variant of achondroplasia and manifests with short stature and dysmorphic features that are often milder than in achondroplasia. In particular there are few craniofacial abnormalities, and body disproportion may be subtle. Newborns may be slightly small, but short stature generally becomes apparent by age 3 years.
Hypochondroplasia - Johns Hopkins Medicine
Hypochondroplasia is a genetic disorder that may occur on its own or be autosomal dominant, passed on through a dominant gene from one parent. There is a 50 percent chance of passing it on to a child. In hypochondroplasia, the mutation results in …
Hypochondroplasia: Radiological Diagnosis and Differential …
Hypochondroplasia (H.) has been considered for a long time a mild form of achondroplasia (A.). Both entities, on the contrary, are definitely two separate conditions, hypochondroplastic parents having never had children with A. and vice versa.
Achondroplasia and hypochondroplasia. Clinical variation and spinal ...
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.
Hypochondroplasia - NIH Genetic Testing Registry (GTR) - NCBI
Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short ...
FGFR3 Disorders: Thanatophoric Dysplasia ... - Radiology Key
2019年7月7日 · In hypochondroplasia, transmission is autosomal dominant, and most cases are the result of heterozygosity for de novo mutations in the FGFR3 gene. Thanatophoric dysplasia and achondroplasia can be detected by prenatal ultrasound (US), and hypochondroplasia, while milder, may be detected prenatally, particularly when there is an affected parent.
Hypochondroplasia - SpringerLink
If the spouse also has hypochondroplasia or other dominant form of skeletal dysplasia: genetic counseling becoming more complicated due to the high incidence of genetic heterogeneity and the lack of medical literature addressing these circumstances