Novel splicing mutation in B3GAT3 associated with short stature, GH deficiency, hypoglycaemia, developmental delay and multiple congenital anomalies

2017 ◽  
Author(s):  
Samuel Bloor ◽  
Dinesh Giri ◽  
Mohammed Didi ◽  
Senthil Senniappan
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Gh Deficiency ◽  
Splicing Mutation ◽  
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.

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.

An active ring X and haploinsufficiency ofSHOX contribute to short stature, congenital anomalies, and developmental delay in a female

2002 ◽  
Vol 113 (3) ◽  
pp. 279-285 ◽  
Author(s):  
Mary Shago ◽  
Michael Sgro ◽  
Tony Barozzino ◽  
Daniel Antinucci ◽  
Pranesh Chakraborty ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Active Ring
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