PT  - JOURNAL ARTICLE
AU  - Raas-Rothschild, A
AU  - Goodman, R M
AU  - Meyer, S
AU  - Katznelson, M B
AU  - Winter, S T
AU  - Gross, E
AU  - Tamarkin, M
AU  - Ben-Ami, T
AU  - Nebel, L
AU  - Mashiach, S
TI  - Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.
AID  - 10.1136/jmg.25.10.687
DP  - 1988 Oct 01
TA  - Journal of Medical Genetics
PG  - 687--697
VI  - 25
IP  - 10
4099  - http://jmg.bmj.com/content/25/10/687.short
4100  - http://jmg.bmj.com/content/25/10/687.full
SO  - J Med Genet1988 Oct 01; 25
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.