TY - JOUR
T1 - Limb-pelvis hypoplasia/aplasia
T2 - A discrete entity in the fibuloulnar developmental field complex
AU - Genuardi, Maurizio
AU - Gasparini, Paolo
AU - Neri, Giovanni
AU - Zelante, Leopoldo
PY - 1997/1/20
Y1 - 1997/1/20
N2 - The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.
AB - The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.
KW - autosomal recessive
KW - femoral a/hypoplasia
KW - FFU complex
KW - fibular a/hypoplasia
KW - proximal focal femoral deficiency
UR - http://www.scopus.com/inward/record.url?scp=0031044288&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031044288&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19970120)68:2<190::AID-AJMG14>3.0.CO;2-P
DO - 10.1002/(SICI)1096-8628(19970120)68:2<190::AID-AJMG14>3.0.CO;2-P
M3 - Article
C2 - 9028457
AN - SCOPUS:0031044288
VL - 68
SP - 190
EP - 194
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -