A Japanese male infant with the weaver syndrome
نویسندگان
چکیده
منابع مشابه
A girl with the Weaver syndrome.
A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included promi...
متن کاملHormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of gestation with a length of 54.2 cm (+ 2.6 SD), a weight of 3805 g (+ 2.5 SD) and an occipitofront...
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The present report describes a male newborn with a pulsatile structure beneath the sternum. Echocardiography showed common atrium, a single ventricle, mitral atresia, double outlet right ventricle, subpulmonary stenosis, small pulmonary artery branches, and a thin walled ventricular diverticulum suggestive of Cantrell's syndrome. The diverticulum was resected to prevent life threatening events ...
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ژورنال
عنوان ژورنال: Japanese journal of human genetics
سال: 1990
ISSN: 0021-5074
DOI: 10.1007/bf01876855