A Case of 48 , XXXX Female with Normal


The patient was first seen at age 3 years 9 months because of slow development of speech. She was the second child of a 25-year-old mother who had a normal pregnancy, labour, and delivery. Birth weight was 2892 g. The father was 28 years of age. There are two female sibs, aged 6 and 2 years, and both are in good health. No miscarriages are reported. Physical examination revealed an attractive child who was 88 cm tall and weighed 13-7 kg, both of which were within the lower 20th centile for her age and sex. She had epicanthal folds, incurved 5th fingers, widely-spaced nipples, and bilateral external tibial torsion. Her speech was unclear but she related warmly and appropriately to the examiner. Because of the speech difficulty language, speech, and hearing were evaluated. On audiometric screening, hearing was judged normal in both ears. The patient was found to have a severe articulation problem with a delay in both receptive and expressive language. Psychological testing was performed the same day as

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@inproceedings{Blackston2006ACO, title={A Case of 48 , XXXX Female with Normal}, author={R. Dwain Blackston}, year={2006} }