Evaluation of candidate genes for familial brachydactyly
. J Med Genet.
(c, d) Hands photograph showing bones and joints defects: single transverse palmar crease and brachydactyly
. (e) The 8p22.1 microduplication and its coordinates in our patient.
occurs due to premature closure of the epiphyses of the metacarpal bones.
Abbreviations ECM: Extracellular matrix COMP: Cartilage oligomeric matrix protein ADAMTS: A disintegrin and metalloproteinase with thrombospondin motifs MMP: Matrix metalloproteinase IVD: Intervertebral disc PTHrP/PTHLH: Parathyroid hormone-like hormone MARE: Maf recognition element BDE: Brachydactyly
type E SNPs: Single nucleotide polymorphisms OA: Osteoarthritis RA: Rheumatoid arthritis CAIA: Collagen antibody-induced arthritis GEP: Granulin-epithelin precursor [[alpha].sub.2]M: Alpha-2-macroglobulin NP: Nucleus pulposus EVT: Extravillous cytotrophoblast GnRH: Gonadotropin-releasing hormone.
Thomas et al., "Mutations in CDMP1 cause autosomal dominant brachydactyly
type C," Nature Genetics, vol.
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.
Sydney, Feb 09 (ANI): Megan Fox used a body double for close up shots, showing her use new Blur smart phone in the latest Motorola advertisement because of her clubbed thumbs.he 'Transformers' suffers from a genetic condition called 'brachydactyly
,' commonly known as clubbed thumbs.
A new multiple congenital anomaly, mental retardation syndrome with peraxial brachydactyly
Severe progressive kyphoscoliosis, severe arthritic changes with joint dislocations, rhizomelic limbs, genu valgum, cubitus valgus, mild brachydactyly
, camptodactyly, and microdontia occur in this disease (112).
Short, wide fingers and toes (brachydactyly
) and short stature are also typical.