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Mutchinick syndrome in a Japanese girl
H Tonoki1, T Hattori, H Kamoshida
1Division of Cell Biology, Cancer Institute, Hokkaido University School of Medicine, Sapporo, Japan. tonoyan@med.hokudai.ac.jp
Insights
Mutchinick syndrome, a rare congenital disorder, was identified in a Japanese girl, expanding its known geographic and ethnic distribution beyond European origins. This case highlights new clinical features, including heart defects and skin/toe abnormalities.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
Background:
- Mutchinick syndrome is a rare congenital malformation syndrome.
- Previously described in siblings from a specific region in former East Prussia.
Observation:
- A 7-year-old Japanese girl presented with features consistent with Mutchinick syndrome.
- She exhibited growth and developmental retardation, and craniofacial anomalies including microcephaly, hypertelorism, a broad nose, low-set ears, and a tented mouth.
Findings:
- The patient displayed previously undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, syndactyly of toes, and megaloureters.
- This case expands the phenotypic spectrum of Mutchinick syndrome.
Implications:
- The occurrence in a Japanese patient suggests Mutchinick syndrome is not geographically restricted to descendants of individuals from northeastern Europe.
- This finding broadens the understanding of the syndrome's etiology and potential patient population.
Abstract:
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.