Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?
AMERICAN JOURNAL OF MEDICAL GENETICS(1992)
摘要
We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.
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关键词
GROWTH RETARDATION,MICROCEPHALY,FACIAL ANOMALIES,METATARSUS-ADDUCTUS,DEVELOPMENTAL DELAY,UNUSUAL DERMATOGLYPHICS,AUTOSOMAL DOMINANT INHERITANCE,MILD BRACHMANN-DELANGE SYNDROME
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