Abstract #501: A Rare Case of Familial Partial Lipodystrophy II (Dunnigan’s Syndrome) in a Possible Autosomal Dominant Pattern

2016 ◽  
Vol 22 ◽  
pp. 115
Author(s):  
Peminda Cabandugama ◽  
Charles Wiredu ◽  
David Gardner ◽  
Michael Gardner
2010 ◽  
Vol 24 (1) ◽  
pp. E1-E4 ◽  
Author(s):  
G. Gordillo-González ◽  
Y. P. Guatibonza ◽  
I. Zarante ◽  
P. Roa ◽  
L. A. Jacome ◽  
...  

2011 ◽  
Vol 4 ◽  
pp. CMAMD.S7035 ◽  
Author(s):  
M.A. Aghdashi ◽  
M.M. Aghdashi ◽  
M. Rabiepoor

Osteopoikilosis is a rare asymptomatic sclerosing bony dysplasia of benign origin. It is usually found incidentally on radiological examinations. Familial occurrence indicates a genetic milieu with autosomal dominant pattern. Here, we present a case report of a young woman suffering from pelvic pain due to osteopoikilosis (OPK). The same disorder was later found in her son and daughter.


Author(s):  
Vipul Paul Thomas ◽  
Sangiah Sivaramakrishnan ◽  
Jayakar Thomas

<p>Darier’s disease is a rare genodermatosis inherited in an autosomal dominant pattern. The disease is characterised by chronic persistent hyperkeratotic papular eruptions over the seborrheic regions. </p>


MedPharmRes ◽  
2019 ◽  
Vol 3 (2) ◽  
pp. 25-28
Author(s):  
Trong Duc Quach ◽  
Yuji Urabe ◽  
Toru Hiyama

Current pathophysiologic knowledge of achalasia suggests the important involvement of genetic predisposition. However, familial achalasia is very rare and most of the case reports in literature have shown an autosomal recessive pattern of inherence. We hereby report a case of familial achalasia with autosomal dominant pattern of inherence affecting ten members in three generations of a Vietnamese family.


2020 ◽  
pp. 1-2
Author(s):  
Amin N A Soofi ◽  
◽  
Ola Abdelhadi ◽  
Abdelhadi Abdelhadi ◽  
◽  
...  

Congenital Acromial or Shoulder dimples are cutaneous depressions overlying the acromial process of the scapula. They are usually bilateral and symmetrical. Isolated biacromial dimples are usually benign and warrant no further investigations. Family history in an autosomal dominant pattern, as in our case, is frequently obtainable but the majority of isolated bilateral shoulder dimples are sporadic. There are few reports of syndromic associations as well as two cases of associated maternal cocaine abuse. Our case is a term female neonate who was noted on routine new-born check to have bilateral symmetrical shoulder dimples. She was otherwise healthy, had normal range of shoulder movements and was not dysmorphic. On further assessment it transpired the father has the same bilateral shoulder dimples but was not aware of their existence. No further investigations were carried out. This case add to the few reported cases of Biacromial Dimples with autosomal pattern of inheritance in an otherwise normal baby


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