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  • 总部: 泰国曼谷市巴吞汪区仑披尼分区 普勒吉路齐隆巷5号.
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MICROCEPHALY-CARDIOMYOPATHY

MICROCEPHALY-CARDIOMYOPATHY

In a brother and sister of Afrikaner stock, Winship et al. (1991) observed severe microcephaly with mental retardation and dilated cardiomyopathy developing in i...

In a brother and sister of Afrikaner stock, Winship et al. (1991) observed severe microcephaly with mental retardation and dilated cardiomyopathy developing in infancy and later resolving completely. Both had bilateral fifth finger clinodactyly and sandal gaps on both feet.

Kennedy et al. (1999) reported a 9-year-old Canadian girl with features similar to those of the sibs in the report of Winship et al. (1991). She was born to nonconsanguineous parents following an uncomplicated pregnancy. The neonatal period was complicated by seizures and cardiac failure secondary to a ventricular septal defect. Early development was globally delayed. Dilated cardiomyopathy was first noted at 3 years of age, but had completely resolved by 7 years of age. At 9 years of age the patient had a sloping, short forehead, downslanting palpebral fissures, a narrow palate, and crowded teeth. Hands were normal but the halluces were long, and there was a large gap between first and second toes. Her expressive language was poor, but her parents reported that her receptive skills were better. Behavioral problems included inability to sleep and obsessive picking of sores. High-resolution karyotyping to examine regions 15q11-q13 and 22q11, and FISH analysis for 17q11.2 deletion, were normal.

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