A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies.
نویسندگان
چکیده
Sandra C. (H.G. No. 214.1) was the result of a fullterm normal delivery on 14 June 1946. During the neonatal period she was noticed to be 'floppy', though subsequently her muscle tone gradually improved. She stood at 15 months, walked at 18 months, and began to talk at age 2 years. It was about this time that the deformities of her hands and feet were first noticed. Her childhood was uneventful though she was noted to be rather unresponsive and to be mentally backward. Menarche was at age 11, and her periods have been regular ever since. When 3 years old tonsillectomy was performed, and at 9 years of age she underwent operations to correct her foot deformities for which she had further manipulation at age 15. Three years ago all her teeth were removed because of gross caries and pyorrhoea. Her general health has been good. She is at present employed on work of a routine nature by a firm of surgical instrument makers.
منابع مشابه
سندرم نونان (گزارش یک مورد)
Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...
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عنوان ژورنال:
- Journal of medical genetics
دوره 7 4 شماره
صفحات -
تاریخ انتشار 1970