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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.

Generalized osteoporosis

Total: 1

(per page)

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.
	This report presents the case of a 13-year-old female with Angelman syndrome caused by 15q11-13 microdeletion demonstrating unusual marked limb deformities with generalized osteoporosis, delayed bone age, and brachydactyly type B.