title: Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.
abstract: Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition.
authors.affiliation: Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Pricila
authors.initials: P
authors.lastname: Bernardi
authors.forename: Carla
authors.initials: C
authors.lastname: Graziadio
authors.forename: Rafael F M
authors.initials: RF
authors.lastname: Rosa
authors.forename: Lisiane
authors.initials: L
authors.lastname: Dall'Agnol
authors.forename: Paulo R G
authors.initials: PR
authors.lastname: Zen
authors.forename: Giorgio A
authors.initials: GA
authors.lastname: Paskulin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D004423:Ear / Q000002:abnormalities; D005260:Female; D005530:Foot Deformities / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D017689:Polydactyly / Q000150:complications*; D013977:Tibia / Q000002:abnormalities*; D014564:Urogenital Abnormalities / Q000150:complications / Q000175:diagnosis