TY - JOUR
T1 - Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation
AU - Wieczorek, Dagmar
AU - Köster, Bernhard
AU - Gillessen-Kaesbach, Gabriele
PY - 2002/3/15
Y1 - 2002/3/15
N2 - The previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5-year-old boy. Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.
AB - The previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5-year-old boy. Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.
UR - http://www.scopus.com/inward/record.url?scp=0037087408&partnerID=8YFLogxK
U2 - 10.1002/ajmg.10271
DO - 10.1002/ajmg.10271
M3 - Journal articles
C2 - 11891687
AN - SCOPUS:0037087408
SN - 0148-7299
VL - 108
SP - 209
EP - 213
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -
