Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.
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.
Bernardi
Pricila
P
Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil.
Graziadio
Carla
C
Rosa
Rafael F M
RF
Dall'Agnol
Lisiane
L
Zen
Paulo R G
PR
Paskulin
Giorgio A
GA
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