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,

Reply Flag this Discussion
Thanks! A moderator will review your post and it will be live within the next 24 hours.

Signs of a Psoriasis Flare

Know the five types of psoriasis and how to spot flares.

How Diabetes Medications Affect Your Appetite

Newer diabetes treatments can suppress appetite and aid weight loss.

What to Do For Dry Mouth

Try these tips to get your salivary glands back into action.

The Painkiller – Constipation Connection

Constipation is a common side effect of opioid and narcotic pain medicines.

9 Signs of Sensitive Skin

Is it sensitive skin or something else?