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ONYCHOTRICHOTHIODYSTROPHY

The Story

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The Story
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1st  pregnancy:

1987, FT, SVD, healthy boy. He is 19years old now, and doing his 2nd year in School of Dentistry, UK.

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2nd pregnancy:

1991, FT, SVD, affected boy, died at 18 months of age due to Septicaemia and multi-organ failure. Diagnosed as ? Ectodermal  Dysplasia.

3rd pregnancy:

1993 FT, LSCS due to fetal distress, affected boy.

Medical consultation at Great Ormond street Hospital for Sick Children (Sponsered by KOC Hospital)

Diagnosed asGenetically detrmined syndrome characterized by developmental delay, with possible cerebellar disequilibrium, nystagmus and abnormal hair.

Died at the age of 22 months dut to Septicaemia and multi-organ failure.

The parents underwent genetic consultation at John’s Hopkins after their 2nd loss and ONYCHOTRICHOTHIODYSTROPHY as a possible diagnosis was suggested by Dr. Gerald Raymond.

 

4th pregnancy:

1998, At 18thweek gestational age, the mother underwent a fetoscopic skin and hair sampling at Saint Joseph Hospital for Women by Dr. Rubin Quentero in Tampa-Fl.-USA. on 28/02/1998. (Sponsered by KOC Hospital)

Skin and hair biopsy were suggestive of ONYCHOTRICHOTHIODYSTROPHY.

Thrombin patching was attempted to control premature rupture of membranes but that did not succeed and evacuation of the gestational sac was done.

5th pregnancy:

2001, FT, Elective LSCS under spinal anesthesia, healthy girl.

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6th Pregnancy:

2006. FT. Elective LSCS under GA. Healthy girl

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7th Pregnancy:

2007 Elective LSCS  under GA. Healthy boy

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