RT Journal Article
SR Electronic
T1 Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 687
OP 697
DO 10.1136/jmg.25.10.687
VO 25
IS 10
A1 Raas-Rothschild, A
A1 Goodman, R M
A1 Meyer, S
A1 Katznelson, M B
A1 Winter, S T
A1 Gross, E
A1 Tamarkin, M
A1 Ben-Ami, T
A1 Nebel, L
A1 Mashiach, S
YR 1988
UL http://jmg.bmj.com/content/25/10/687.abstract
AB A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.