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RGUHS Nat. J. Pub. Heal. Sci Vol: 14  Issue: 2 eISSN:  pISSN

Case Report

Congenital Pena-Shokeir Phenotype : A lethal Pattern of multiple anomalies

Bharat Kansal*, Deepthi Ravi*, Gayathri H Aradhya **, Basavaraj AC * * *

*Resident in Pediatrics, * * Associate Professor, ***Professor and Head, Department of Paediatrics, JJM Medical College, Davangere

Corresponding author:

Dr Bharat Kansal Department Of Pediatrics JJM MedicaiCoiiege Davangere 577 004 bharatl 00989@gmaii.com

Year: 2015, Volume: 5, Issue: 4, Page no. 177-179,
Views: 573, Downloads: 3
Licensing Information:
CC BY NC 4.0 ICON
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0.
Abstract

Pena-Shokeir Phenotype is a unique pattern of iethai muitipie maiformation syndrome dispiaying characteristics of muitipie ankyioses, camptodactyiy, faciai anomaiies (abnormai ears, hyperteiorism, micrognathia) and puimonary hypopiasia. Most of them die in-utero or within 1 month after birth. We experienced a case of Pena-Shokeir Syndrome who died within 10 minutes after birth, it may have an autsomai recessive or sporadiac pattern. 

<p>Pena-Shokeir Phenotype is a unique pattern of iethai muitipie maiformation syndrome dispiaying characteristics of muitipie ankyioses, camptodactyiy, faciai anomaiies (abnormai ears, hyperteiorism, micrognathia) and puimonary hypopiasia. Most of them die in-utero or within 1 month after birth. We experienced a case of Pena-Shokeir Syndrome who died within 10 minutes after birth, it may have an autsomai recessive or sporadiac pattern.&nbsp;</p>
Keywords
Pena-Shokeir, muitipie ankyioses, puimonary hypopiasia, autsomai recessive
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