scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

Choroid plexus papilloma and Pierpont syndrome

2013 ◽  
Vol 11 (2) ◽  
pp. 115-118 ◽  
Author(s):  
Sudhakar Vadivelu ◽  
Morris Edelman ◽  
Steven J. Schneider ◽  
Mark A. Mittler
Keyword(s):  
Mental Retardation ◽  
Choroid Plexus ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Choroid Plexus Papilloma ◽  
Multiple Congenital Anomalies ◽  
Documented Case ◽  
Fourth Case ◽  
Atypical Choroid Plexus Papilloma ◽  
Plexus Papilloma

The authors describe the case of a child who presented with hydrocephalus and phenotypic features characteristic of a multiple congenital anomalies/mental retardation syndrome. Dysmorphic facies, medial plantar lipomatosis, and developmental delay were observed in this case and are identical to documented findings of Pierpont syndrome diagnosed in 3 boys. This is the fourth case reported to date and is the first documented case of an oncological process— an intraventricular atypical choroid plexus papilloma tumor—found in association with Pierpont syndrome. Syndromes associated with choroid plexus papilloma are reviewed.

scholarly journals Scaphoid Fracture in a Patient with a Scaphotrapezial Synostosis: A Case Report and Literature Review

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Soliman Noureldin ◽  
Mohammed Ali ◽  
Farshid Fallahi ◽  
Thomas Dehler
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Literature Review ◽  
Congenital Anomalies ◽  
Scaphoid Fracture ◽  
Multiple Congenital Anomalies ◽  
Proximal Pole ◽  
Left Wrist ◽  
Hereditary Syndrome ◽  
Satisfactory Outcome

Introduction. Scaphotrapezial synostosis has been rarely reported in the literature and only one case underwent surgical treatment for scaphoid fracture. Presentation of Case. A 15-year-old male presented with a painful left wrist following a fall. The initial radiographs showed a displaced scaphoid proximal pole fracture and a Scaphotrapezial synostosis. The fracture was then fixed percutaneously with satisfactory outcome. Discussion. Scaphotrapezial synostoses are very rare and most found in patients with multiple congenital anomalies or as part of a hereditary syndrome. They have previously been reported; however, we found only one case reporting a concomitant scaphoid fracture. Conclusion. This is the second case of its kind to report surgical treatment of scaphoid fracture associated with a congenital Scaphotrapezial synostosis.

scholarly journals Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Wang ◽  
Shiyuan Zhou ◽  
Fei He ◽  
Xuelian Zhang ◽  
Jianqi Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Critical Region ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies ◽  
Microdeletion Syndrome ◽  
Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

Four-Vessel Umbilical Cord Associated with Multiple Congenital Anomalies: A Case Report and Literature Review

2011 ◽  
Vol 30 (2) ◽  
pp. 98-105 ◽  
Author(s):  
Surasak Puvabanditsin ◽  
Eugene Garrow ◽  
Mayoor Bhatt ◽  
Suganya Kathiravan ◽  
Sharada Gowda ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Umbilical Cord ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies
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