TY - JOUR
T1 - Probable New Syndrome in a Mexican Family with Congenital Palmar Polyonychi and Postaxial Limb Defects
AU - Corona-Rivera, J. Román
AU - Corona-Rivera, Enrique
AU - Fragoso-Herrera, Rubén
AU - Nuño-Arana, Ismael
AU - Loera-Castañeda, Verónica
PY - 2004/3/1
Y1 - 2004/3/1
N2 - Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male-to-male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome.
AB - Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male-to-male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome.
KW - Ectopic nails
KW - Ectrodactyly
KW - Palmar nails
KW - Postaxial polydactyly
KW - Ulnar agenesis
UR - http://www.scopus.com/inward/record.url?scp=1442308547&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.20443
DO - 10.1002/ajmg.a.20443
M3 - Artículo
C2 - 14981725
AN - SCOPUS:1442308547
SN - 1552-4825
VL - 125 A
SP - 205
EP - 209
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -