Brachydactyly type B

Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.

Osteoporosis

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).


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PMID (PMCID)
15876517
FEMALE
A female with Angelman syndrome and unusual limb deformities.
Oiglane-Shlik E, Rein R, Tillmann V, Talvik T, Ounap K.
Pediatr Neurol. 2005;33(1):66-9.
These clinical findings could not be explained by classical rickets or osteoporosis, but can be classified as brachydactyly type B.