Journal of Emergency Health Care
Formerly known as: International Journal of Medical Investigation
Volume 1, Issue 1 (December 2012)
J Emerg Health Care 2012, 1(1): 0-0 |
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Ghaemi N, Zamanfar D, Sharifi Haddad A, Azadi R. CONGENITAL ICHTHYOSIFORM ERYTHRODERMA WITH NON- SYNDROMIC CLINICAL PRESENTATION OF SHORT STATURE. J Emerg Health Care 2012; 1 (1)
URL: http://intjmi.com/article-1-21-en.html
URL: http://intjmi.com/article-1-21-en.html
Department of Pediatric Endocrinology
Abstract: (10313 Views)
In this article we report a 10 years old boy with congenital ichthyosiform erythroderma and short stature.He was born as a collodion baby. Skeletal manifestations were short stature (Height zscore of -5), delayed bone age with normal serum calcium and phosphorus level and upper to lower ratio of 1.09 (U/L=1.09). This case showed an increasing ALP and LDH in several lab data. Lab evaluations of hair, eyes, ears and mental status were all normal. In the skeletal radiographies there was no finding to support Rickets.
The cited features do not match with syndromes that contain congenital ichthyosiform erythroderma such as Netherton syndrome, Tay syndrome, Run syndrome etc.
Please provide your thoughts or other syndromes to consider to aid in the treatment of this child.
Type of Study: case report |
Subject:
General
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