DEVELOPMENTAL ANOMALIES SUGGESTIVE OF THE HUMAN HOMOLOG OF THE MOUSE MUTANT DISORGANIZATION

We describe a al-week-old fetus with a pattern of multiple congenital anomalies suggestive of the human homologue of the mouse mutant disorg anization (Ds). Manifestations included facial asymmetry, thick eye br ews, micrognathia, apparently lowset ears, an enormous abdominal wall defect, severe kyphoscoliosis, camptodactyly of the fingers, complete absence of the left lower limb, and absence of the lower part of the s acrum and coccyx, as well as left side of the pelvis. There was a diso rganized appearance of the right foot with supernumerary digits and ap pendages and talipes equinovarus. No obvious amniotic bands or oligohy dramnios were noted. Similar cases in the literature are reviewed and the clinical significance to genetic counselling is emphasized. (C) 19 95 Wiley-Liss, Inc.