brachydactyly


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  • noun

Synonyms for brachydactyly

abnormal shortness of fingers and toes

References in periodicals archive ?
The characteristic physical features of short stature, round face, brachydactyly of the fourth and fifth metacarpals and the biochemical findings of normal serum calcium, phosphorus and parathyroid hormone concentrations along with a very low level of gonadotropin hormones led us to the diagnosis of Albright's syndrome in this patient who presented to us with primary amenorrhea and hypogonadism.
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly lax small joints, various malalignments of the lower limbs owing to laxity of the large joints, and characteristic radiological features.
Clinical and radiographic features of achondroplasia Clinical features Radiographic features Disproportionate short stature Long bones: Short, robust tubular bones; generalised metaphyseal Large head with frontal bossing changes (may be mild) Mid-face hypoplasia with depressed Spine: narrowing of the nasal bridge interpedicular distance in lumbar spine Rhizomelic shortening of the arms and legs Pelvis: rounded ilia and horizontal acetabulae; narrow Brachydactyly, often with trident sacrosciatic notches configuration of the hands Femurs: proximal radiolucency of Bowed legs femoral heads Thoraco-lumbar kyphosis in infancy Exaggerated lumbar lordosis when ambulatory Normal/average intelligence
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly.
Weill-Marchesani syndrome is also a connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye anomalies including ectopia lentis, which is also one of the clinical symptoms of MFS.
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
If they survive, children with neonatal hyperthyroidism may demonstrate growth retardation, advanced bone age, premature craniosynostosis, exophthalmos, brachydactyly, and frontal bossing.