A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred.
We describe 23 cases with a syndrome of congenital contractures belonging to a large, inbred Israeli-Bedouin kindred. The phenotype described is similar to the Finnish type lethal congenital contracture syndrome yet differs in the following ways: by some additional craniofacial/ocular findings, by the lack of hydrops, multiple pterygia, and fractures, and by the normal duration of pregnancy. The major unique and previously undescribed clinical feature in our patients is a markedly distended urinary bladder as well as other urinary abnormalities. The vast majority of the cases died shortly after birth. Sonographic prenatal diagnosis was possible as early as 15 weeks gestation by demonstrating fetal akinesia, limb contractures, hydramnios, and distended urinary bladder. Linkage to 5q and 9q34 loci has been excluded.
Landau
Daniella
D
Department of Neonatology, Soroka Medical Center and the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. landaud@bgumail.bgu.ac.il
Mishori-Dery
Anat
A
Hershkovitz
Reli
R
Narkis
Ginat
G
Elbedour
Khalil
K
Carmi
Rivka
R
D018912:Arabs / Q000235:genetics*; D003286:Contracture / Q000151:congenital / Q000235:genetics*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007557:Israel; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D013577:Syndrome