Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: a distinct autosomal-recessive disorder.
We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset. To our knowledge, this syndrome has not yet been reported. The family history suggests autosomal-recessive inheritance.
Sarralde
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A
Division de Genética, Centro de Investigación Biomédica de Occidente, Subjefactura de Investigación Cientifica, Guadalajara, Mexico.
Reynoso
M C
MC
Nazará
Z
Z
Soto
F
F
Hernández
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A
D000293:Adolescent; D000328:Adult; D001176:Arthrogryposis / Q000235:genetics*; D002648:Child; D003286:Contracture / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010388:Pelvis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography