scholarly journals Focal dermal hypoplasia - a radiographic case report

2020 ◽  
Vol 75 (4) ◽  
Author(s):  
Z Yakoob ◽  
C Nel
Keyword(s):  
Case Report ◽  
Focal Dermal Hypoplasia

scholarly journals Focal dermal hypoplasia: A rare case report

2015 ◽  
Vol 60 (1) ◽  
pp. 106 ◽  
Author(s):  
SahanaM Srinivas ◽  
Ravi Hiremagalore
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Focal Dermal Hypoplasia ◽  
Rare Case Report

scholarly journals Focal dermal hypoplasia: a case report and review of literature

2004 ◽  
Vol 22 (4) ◽  
Author(s):  
AO Ogunbiyi ◽  
IO Adewole ◽  
O Ogunleye ◽  
JO Ogunbiyi ◽  
OO Ogunseinde ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of Literature ◽  
Focal Dermal Hypoplasia

Focal dermal hypoplasia syndrome: (a case report)

1981 ◽  
Vol 48 (6) ◽  
pp. 781-783
Author(s):  
S. Premalatha ◽  
N. M. Kalyani ◽  
V. R. Janaki ◽  
A. Chandrasekaran ◽  
A. S. Thambiah
Keyword(s):  
Case Report ◽  
Focal Dermal Hypoplasia

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

2018 ◽  
Vol 154 (3) ◽  
pp. 119-121
Author(s):  
Ceren D. Durmaz ◽  
John McGrath ◽  
Lu Liu ◽  
Halil G. Karabulut
Keyword(s):  
Case Report ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Novel Mutation ◽  
Premature Stop Codon ◽  
Clinical Findings ◽  
Gorlin Syndrome ◽  
Focal Dermal Hypoplasia ◽  
Skeletal Defects ◽  
The Right

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot. These clinical findings were compatible with the diagnosis of FDH, and a novel mutation, NM_022825.3:c.488delG was found in the PORCN gene causing a premature stop codon.

Focal dermal hypoplasia: management of complex dental features

2001 ◽  
Vol 25 (4) ◽  
pp. 259-261 ◽  
Author(s):  
L. Stephen ◽  
N. Behardien ◽  
P. Beighton
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Dental Anomalies ◽  
Multiple Features ◽  
Focal Dermal Hypoplasia ◽  
Molar Teeth

A 17 year-old female who presented for treatment of grossly carious lower first molar teeth had multiple features of Focal Dermal Hypoplasia (FDH). These included enamel pitting and hypoplasia, anomalies of shape, size and positioning of teeth, as well as soft tissue papillomas and telangiectasis of tongue.A case report and a synopsis of the syndrome (FDH) are presented, the oral aspects of the condition are reviewed and the management of the complex dental anomalies is discussed.

Focal dermal hypoplasia: a case report and literature review

2011 ◽  
Vol 112 (2) ◽  
pp. e11-e18 ◽  
Author(s):  
Christiana Murakami ◽  
Adriana de Oliveira Lira Ortega ◽  
Antônio Sérgio Guimarães ◽  
Daniela Gonçalves-Bittar ◽  
Marcelo Bönecker ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Focal Dermal Hypoplasia

Focal dermal hypoplasia (Goltzʼs syndrome) with an expansile iliac lesion. A case report.

1981 ◽  
Vol 63 (3) ◽  
pp. 470-473 ◽  
Author(s):  
R D Lynch ◽  
R T Leshner ◽  
P J Nicholls ◽  
W E Matthews
Keyword(s):  
Case Report ◽  
Focal Dermal Hypoplasia
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