A. Sarralde et al., PRENATAL GROWTH-RETARDATION, PELVIC HYPOPLASIA, AND ARTHROGRYPOTIC CHANGES OF LOWER-LIMBS - A DISTINCT AUTOSOMAL-RECESSIVE DISORDER, American journal of medical genetics, 75(5), 1998, pp. 453-460
We report on 5 sibs (4 males, 1 female) with growth retardation, sever
e 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 histor
y suggests autosomal-recessive inheritance.