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 hom the Middle East, and auto-somal 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 characterics 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 held theory. (C) Wiley-Liss, Inc.

Genuardi, M., Gasparini, P., Neri, G., Zelante, L., Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex, <<AMERICAN JOURNAL OF MEDICAL GENETICS>>, 1997; 68 (2): 190-194. [doi:10.1002/(SICI)1096-8628(19970120)68:2<190::AID-AJMG14>3.0.CO;2-P] [https://hdl.handle.net/10807/219916]

Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex

Genuardi, Maurizio;
1997

Abstract

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 hom the Middle East, and auto-somal 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 characterics 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 held theory. (C) Wiley-Liss, Inc.
1997
Inglese
Genuardi, M., Gasparini, P., Neri, G., Zelante, L., Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex, <<AMERICAN JOURNAL OF MEDICAL GENETICS>>, 1997; 68 (2): 190-194. [doi:10.1002/(SICI)1096-8628(19970120)68:2<190::AID-AJMG14>3.0.CO;2-P] [https://hdl.handle.net/10807/219916]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/219916
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