Rana Tashfeen Arshad, Asim Cheema, Agha Shabbir Ali.
Thanatophoric Dysplasia Type I.
Pak Paed J Jan ;43(1):57-9.

Thanatophoric dysplasia is a rare skeletal disorder caused by genetic mutation. Its prognosis is poor as most of the deaths occur during fetal or neonatal period. No cure is available. Reported here, is a case presented to a tertiary care hospital with short limbs, short neck, narrow bell-shaped chest and respiratory distress. Full body scan showed large calvarium with small base, femur dysplasia, hypoplasia of iliac bone and narrow bell-shaped chest suggestive of type I thanatophoric dysplasia. The findings and fate of this case are discussed along-with the literature review. Objective of the case report is to document the presence and outcome of this rare disorder in our region and population, since we could not find any local reporting of this case.

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