Mutchinick syndrome in a Japanese girl

We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare co ngenital malformation syndrome described in a pair of Argentinean sisters a nd a pair of German brothers; both originating from the same geographic reg ion in the former East Prussia, The girl we describe had most of the clinic al manifestations of the syndrome, including growth and developmental retar dation, and craniofacial anomalies with microcephaly, hypertelorism, a broa d straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndacty ly of second and third toes, and megaloureters, The occurrence of the syndr ome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern Europe. Am. J, Med, Genet, 83: 96-99, 1999, (C) 1999 Wiley-Liss, Inc.