Discussions By Condition: Rare Disases

47xxx syndrome

Posted In: Rare Disases 0 Replies
  • Posted By: I. Abbasi
  • March 16, 2013
  • 04:19 AM

My 18-year-old daughter has been diagnosed as suffering from 47xxx syndrome.
I request your kind self to help me by providing information on vocational and other
training for people with such handicaps.

Below is given her case history from Dept. of Endocrinology..., Christian Medical College,
Vellore, Tamil Nadu, India.

47xxx Syndrome, Vitamin Deficiency, Bilateral Perthe's Syndrome.

"17-year-old Ms. Ema Abbasi was seen in the Endocrinology OPD, had meningitis at the age
of 1.5 months, difficulty in walking for the last six years. History of fracture in the right shin present.
Oligomenorrhea present. Menstruation started at the age of 12 years. Currently once in 2-3 months.
CSOM bilateral since childhood. Suboptimal academic performance present. Delayede motor and
speech milestones present.

Family History:
Grandmother had diabetes mellitus.
Mother has hypothyroidism.

On Examination
Height: 160 cms. Weight: 72.9 kg.
IBW: 54kg. BMI: 28.5kg./m^
Pulse: 84/min.
Blood pressure: 110/80 mmHg.
CVS /RS / Abdomen norma.
Ankylolysis present.
Antalgic gair present.l

Thank you,

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