Smith-Lemli-Opitz Syndrome: A Case Report

2013 ◽  
Vol 35 (2) ◽  
pp. 83-86
Author(s):  
Tahir Atik ◽  
Huseyin Onay ◽  
Ayca Aykut ◽  
Ozgur Cogulu ◽  
Ferda Ozkinay
Keyword(s):  
Case Report ◽  
Opitz Syndrome

Smith-Lemli-Opitz syndrome: a review, case report and dental implications

2003 ◽  
Vol 23 (1) ◽  
pp. 22-27 ◽  
Author(s):  
Kathleen B. Muzzin ◽  
Lisa F. Harper
Keyword(s):  
Case Report ◽  
Opitz Syndrome

NOP03 Germinoma of pineal and sellar region in a patient with Smith-Lemli-Opitz syndrome: a case report

2007 ◽  
Vol 11 ◽  
pp. 117
Author(s):  
M. Muchova ◽  
H. Oslejskova ◽  
J. Sterba ◽  
V. Horinova ◽  
D. Valik ◽  
...  
Keyword(s):  
Case Report ◽  
Sellar Region ◽  
Opitz Syndrome

Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: A case report

2004 ◽  
Vol 129A (2) ◽  
pp. 212-213 ◽  
Author(s):  
Dinesh Rakheja ◽  
Michael L. Cimo ◽  
Ronald M. Ramus ◽  
Beverly B. Rogers ◽  
Michael J. Bennett ◽  
...  
Keyword(s):  
Case Report ◽  
Cholesterol Biosynthesis ◽  
Opitz Syndrome

Variant of bohring-opitz syndrome: A rare case report

2021 ◽  
Vol 4 (2) ◽  
pp. 84-86
Author(s):  
Ramesh Choudhary ◽  
Romesh Gauttam ◽  
Vishnu Pansari ◽  
Anand Kumawat
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Medical Literature ◽  
Male Child ◽  
Rare Syndrome ◽  
First Case ◽  
Eventration Of Diaphragm ◽  
Rare Case Report ◽  
Opitz Syndrome

Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm   (left side) which has not  been reported yet with this syndrome.  To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated.

Smith-Lemli-Opitz syndrome: case report on two patients with different clinical presentation

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
M Wilmsmeyer ◽  
I Königs ◽  
C Bendl ◽  
S König
Keyword(s):  
Case Report ◽  
Clinical Presentation ◽  
Opitz Syndrome

Smith-Lemli-Opitz syndrome: Case report and literature review

2000 ◽  
Vol 35 (12) ◽  
pp. 1840-1842 ◽  
Author(s):  
E. Danzer ◽  
F. Schier ◽  
S. Giggel ◽  
M. Bondartschuk
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Opitz Syndrome

scholarly journals Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report

2018 ◽  
Vol 12 (1) ◽  
Author(s):  
Chamara Jayamanne ◽  
Sajith Sandamal ◽  
Kasun Jayasundara ◽  
Mayoorathy Saranavabavananthan ◽  
Sachith Mettananda
Keyword(s):  
Case Report ◽  
Adrenal Crisis ◽  
Opitz Syndrome
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