Lungarotti et a1 [1987] reported on a patient with a multiple congenital anomaly (MCA) syndrome they considered a phenocopy of the isotretinoin syndrome. A phenocopy is defined as an environmentally induced phenotype mimicking one usually produced by a specific genotype [Dorland's Illustrated Medical Dictionary, 19851. Since the patient had no known exposure in utero and the isotretinoin syndrome is not a genetically determined disorder, the use of the term "phenocopy" is inappropriate. Their patient has some of the changes of isotretinoin embryopathy (microtia, absence of external auditory canals, and congenital heart defect) the infant had a number of anomalies which have not been attributed to isotretinoin (duodenal aplasia, extrahepatic biliary atresia, absence of gallbladder, severe bilateral renal hypoplasia, and preauricular skin tags) [Lammer et al, 19851. In light of the discrepancies between their patient's phenotype and the isotretinoin phenotype and the absence of any known environmental exposures, we wonder what led the authors to conclude that their patient might represent a variant of the isotretinoin embryopathy.
Everyone involved in the practice of clinical genetics encounters patients with malformation complexes that have not been previously described. It certainly is useful to present these cases for the consideration of other workers. But, the case reports should be presented in a neutral fashion, and the titles of such articles should not suggest a diagnosis. The patient described by Lungarotti et a1 had problems that developed over an extended period of gestation; the gallbladder forms during week 3, the atrial septum develops in week 5, the external ears form in week 6 , and both the severe renal hypoplasia and the cystic degeneration of intrahepatic channels require inappropriate tissue growth over time.
A list of possible etiologies for the complex of malformations in Lungarotti's patient should include a private autosomal recessive syndrome, a new mutation to an autosomal dominant disorder, and an unknown, pregnancy-long exposure to a teratogen.