scholarly journals Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

2018 ◽  
Vol 6 (11) ◽  
pp. 2103-2110 ◽  
Author(s):  
Sofia Frisk ◽  
Catherine Grandpeix-Guyodo ◽  
Karin Popovic Silwerfeldt ◽  
Helgi Thor Hjartarson ◽  
Dimitris Chatzianastassiou ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Goltz Syndrome

scholarly journals Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

2021 ◽  
Author(s):  
Enrico Boninsegna ◽  
Emilio Simonini ◽  
Stefano Crosara ◽  
Antonia Semeraro ◽  
Stefano Colopi
Keyword(s):  
Clinical Report ◽  
Review Of The Literature ◽  
Aicardi Syndrome ◽  
Hepatic Adenomatosis

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review

2017 ◽  
Vol 06 (04) ◽  
pp. 227-233 ◽  
Author(s):  
Irina Novikova ◽  
Paushpala Sen ◽  
Ann Manzardo ◽  
Merlin Butler
Keyword(s):  
Intellectual Disability ◽  
Male Patient ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Report ◽  
Intrauterine Growth ◽  
Interstitial Duplication ◽  
Craniofacial Features ◽  
Sparse Hair ◽  
Small Mouth

AbstractWe present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495–4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur. All patients were found to have a psychomotor developmental delay and/or intellectual disability with the majority having microcephaly, intrauterine growth retardation, and hypotonia. Common craniofacial findings included a tall, prominent forehead, an elongated face, epicanthal folds, hypertelorism, prominent low-set ears, philtrum anomaly, and a small mouth. Other less common features included abnormal digits, sparse hair, and cardiac defects. Clinical features, chromosome duplication sizes, locations, and the number of genes will be summarized in a tabular form.

scholarly journals Bilateral Ageusia and Tongue Anesthesia Following Unilateral Brainstem Infarct: A Case Report with a Brief Review of the Literature

2018 ◽  
Vol 10 (1) ◽  
pp. 60-65
Author(s):  
Christian Saleh ◽  
Simona  Negoias ◽  
Franca Wagner ◽  
Marie-Luise Mono
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Review Of The Literature ◽  
Important Symptom

We present the case of a 63-year-old male patient who suffered bilateral ageusia following a unilateral left-sided mesencephalon infarct. To the best of our knowledge, this is the first description of a mesencephalon lesion leading to ageusia. We discuss the literature on this rare but important symptom following a stroke.

An Unusual Case of an Odontogenic Keratocyst Associated With an Ungrafted Alveolar Cleft: A Case Report and Review of the Literature

2018 ◽  
Vol 56 (1) ◽  
pp. 110-115 ◽  
Author(s):  
Sapna Radia ◽  
Alexander C. Cash ◽  
Kanwalraj Moar
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Bone Grafting ◽  
Unusual Case ◽  
Odontogenic Keratocyst ◽  
Permanent Teeth ◽  
Treatment Modalities ◽  
Review Of The Literature ◽  
Alveolar Cleft

We describe an unusual case of an odontogenic keratocyst (OKC) associated with an ungrafted left-sided alveolar cleft in a 10-year-old male patient. There is no previous report in the literature of OKC or other dental cysts associated with an alveolar cleft. We discuss the management of the OKC prior to secondary bone grafting and present this case to highlight the difficulty in the management of OKC concurrent with grafting of the alveolar cleft site, the proximity of unerupted permanent teeth, and possible treatment modalities.

scholarly journals Lipoma in Penis : A Rare Case Report

2013 ◽  
Vol 3 (1) ◽  
pp. 24-25
Author(s):  
T Ahmed ◽  
MA Kalam ◽  
II Mannan ◽  
MA Simi
Keyword(s):  
Case Report ◽  
Plastic Surgery ◽  
Male Patient ◽  
Rare Case ◽  
Young Male ◽  
Histopathological Analysis ◽  
Review Of The Literature ◽  
Ventral Aspect ◽  
Rare Case Report ◽  
Pedunculated Tumor

In this article we report one case of lipoma of the penis in a twenty three years old young male. This site of lipoma is rare. A case of a young male patient who consulted for removal of a penile lump is presented. The small, regular, wellcircumscribed pedunculated tumor localized on the ventral aspect of the penis was excised. The histopathological analysis showed a benign lipoma. A review of the literature showed lipoma of the penis to be very uncommon. For this reason, we were prompted to report this case.DOI: http://dx.doi.org/10.3329/bdjps.v3i1.15003 Bangladesh Journal of Plastic Surgery 2012, 3(1): 24-25

Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature

2002 ◽  
Vol 110 (3) ◽  
pp. 278-282 ◽  
Author(s):  
Regine Schubert ◽  
Thomas Eggermann ◽  
Cornelia Hofstaetter ◽  
Barbara von Netzer ◽  
Gisela Knöpfle ◽  
...  
Keyword(s):  
Clinical Report ◽  
Review Of The Literature

Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature

2011 ◽  
Vol 155 (4) ◽  
pp. 911-914 ◽  
Author(s):  
Nicola Specchio ◽  
Antonio Carotenuto ◽  
Marina Trivisano ◽  
Simona Cappelletti ◽  
Cristina Digilio ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Report ◽  
Review Of The Literature
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