ZIMMER PHOCOMELIA - DELINEATION BY PRINCIPAL COORDINATE ANALYSIS

We present a 46,XX stillborn fetus with tetraphocomelia, absence of ea rs, severe hypoplasia of nose, cleft palate, pulmonary hypoplasia, imp erforate anus and vagina, and phallus-like structure on an otherwise u ndefined perineum. The pattern of abnormalities resembles the tetrapho comelic condition described by Zimmer et al, in 1985. Tetraphocomelia, ear/nose hypoplasia with facial clefts, pulmonary hypoplasia, and def ects of the caudal end including imperforate anus, and abnormal genita lia constitute a distinct pattern of malformation termed Zimmer phocom elia. Principal coordinate analysis with Cower's similarity in dex sup ported the clinical impression that cases reported by Zimmer and the p resent case are distinct from other phocomelic conditions. Although Zi mmer phocomelia is currently referred to as ''X-linked amelia,'' docum entation of a female case with a penis-like structure in this report a s well as consanguinity in the original family in Zimmer's report indi cates that this condition is likely inherited in an autosomal recessiv e fashion. Zimmer phocomelia may be a more appropriate name than X-lin ked amelia. (C) 1996 Wiley-Liss, Inc.