scholarly journals Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

2019 ◽  
Vol 5 (3) ◽  
pp. a004101 ◽  
Author(s):  
Volkan Okur ◽  
Charles A. LeDuc ◽  
Edwin Guzman ◽  
Zaheer M. Valivullah ◽  
Kwame Anyane-Yeboa ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
Splice Variant ◽  
Global Developmental Delay ◽  
Multiple Congenital Anomalies

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.

scholarly journals Joubert syndrome with multiple pituitary hormone deficiency

2019 ◽  
Vol 12 (4) ◽  
pp. e229016 ◽  
Author(s):  
Nese Akcan ◽  
Firdevs Bas ◽  
Sukran Poyrazoglu ◽  
Ruveyde Bundak
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
Joubert Syndrome ◽  
Unusual Presentation ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Multiple Congenital Anomalies ◽  
Multiple Pituitary Hormone Deficiency ◽  
Pituitary Hormone Deficiency ◽  
Rare Association

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain–hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.

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