We present a 46,XX stillborn fetus with tetraphocomelia, absence of ears, severe hypoplasia of nose, cleft palate, pulmonary hypoplasia, imperforate anus and vagina, and phallus-like structure on an otherwise undefined perineum. The pattern of abnormalities resembles the tetraphocomelic condition described by Zimmer et al. in 1985. Tetraphocomelia, ear/nose hypoplasia with facial clefts, pulmonary hypoplasia, and defects of the caudal end including imperforate anus, and abnormal genitalia constitute a distinct pattern of malformation termed Zimmer phocomelia. Principal coordinate analysis with Gower's similarity index supported the clinical impression that cases reported by Zimmer and the present case are distinct from other phocomelic conditions. Although Zimmer phocomelia is currently referred to as 'X-linked amelia,' documentation of a female case with a penis-like structure in this report as well as consanguinity in the original family in Zimmer's report indicates that this condition is likely inherited in an autosomal recessive fashion. Zimmer phocomelia may be a more appropriate name than X-linked amelia.
|American journal of medical genetics
|Published - 1996 12月 2
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