A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies.

نویسندگان

  • A E Emery
  • M M Nelson
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.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 7 4  شماره 

صفحات  -

تاریخ انتشار 1970