Duplication of the Mandibular Primary Dentition in Oro-facial-digital Syndrome Type IV

2009 ◽  
pp. 091202121239062
Author(s):  
Bhavin Soneji
Keyword(s):  
Primary Dentition ◽  
Syndrome Type ◽  
Type Iv

scholarly journals Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

1991 ◽  
Vol 266 (8) ◽  
pp. 5244-5248
Author(s):  
H Vissing ◽  
M D'Alessio ◽  
B Lee ◽  
F Ramirez ◽  
P H Byers ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome ◽  
Procollagen Iii

scholarly journals A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Paula Sienes Bailo ◽  
José Luis Bancalero Flores ◽  
Raquel Lahoz Alonso ◽  
María Santamaría González ◽  
Alex Gutiérrez Dalmau ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Alport Syndrome ◽  
Clinical Symptoms ◽  
Molecular Testing ◽  
Syndrome Type ◽  
Variant Of Uncertain Significance ◽  
Type Iv ◽  
Novel Variant ◽  
End Stage

ABSTRACT Objectives Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collagen α3, α4, and α5, respectively. If left untreated, clinical symptoms progress from microscopic hematuria to proteinuria, progressive kidney failure, and end-stage kidney disease. At present, kidney transplantation is the only effective approach. Next-generation sequencing is the method of choice for the diagnosis of this condition. Case presentation We report the case of a young man with chronic kidney disease who eventually underwent transplantation. Molecular testing made it possible to determine the etiology of his clinical symptoms and autosomal recessive Alport syndrome type 2. The patient was found to be a compound heterozygote for two missense variants (trans configuration) in the COL4A3 gene: A likely pathogenic variant c.4981C>T (p.Arg1661Cys) in exon 52 inherited from the mother (described elsewhere), and another variant of uncertain significance, c.943G>A (p.Gly315Ser), in exon 17 inherited from the father that has not been previously reported in the literature or found in relevant databases. Conclusions Following genetic confirmation, genetic counseling was provided to the patient and his direct relatives.

Cerebrovascular complications in Ehlers-Danlos syndrome type IV

1995 ◽  
Vol 38 (6) ◽  
pp. 960-964 ◽  
Author(s):  
Kathryn N. North ◽  
David A. H. Whiteman ◽  
Melanie G. Pepin ◽  
Peter H. Byers
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Cerebrovascular Complications ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals Genetic Analysis of Three Korean Patients with Clinical Features of Ehlers-Danlos Syndrome Type IV

2007 ◽  
Vol 22 (4) ◽  
pp. 698 ◽  
Author(s):  
Jeong Hoon Yang ◽  
Seung-Tae Lee ◽  
Jee-Ah Kim ◽  
Sung Hae Kim ◽  
Shin-Yi Jang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Korean Patients ◽  
Type Iv ◽  
Danlos Syndrome

Neuromuscular Manifestations in a Patient with Ehlers-Danlos Syndrome Type IV

2009 ◽  
Vol 11 (2) ◽  
pp. 81-87 ◽  
Author(s):  
Alexandru Barboi ◽  
Cedric Dennis ◽  
Michael Timins ◽  
Wendy Peltier ◽  
Craig M Klotz ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome
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