Mutchinick syndrome in a Japanese girl.
We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East Prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad 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 syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern Europe.
Tonoki
H
H
Division of Cell Biology, Cancer Institute, Hokkaido University School of Medicine, Sapporo, Japan. tonoyan@med.hokudai.ac.jp
Hattori
T
T
Kamoshida
H
H
Ohta
Y
Y
Niikawa
N
N
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome