Name: PubCaseFinder
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Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Cleft lip

A gap in the lip or lips.

Total: 1

(per page)

PMID (PMCID)
22821638	FEMALE	Infant
	Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
	Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gerard M. Am J Med Genet A. 2012;158A(9):2277-82.
	We report on an 8-month-old girl with intra-uterine growth retardation, microcephaly, incomplete cleft lip, axial hypotonia, failure to thrive, and brachydactyly type B (phalangeal agenesis and absence of nails).