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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 2

                       


(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).
9546830
 FEMALE
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
Ounap K, Justus I, Lipping-Sitska M.
Clin Dysmorphol. 1998;7(1):45-50.
We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B).