scholarly journals Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Madan Gopal Choudhary ◽  
Prashant Babaji ◽  
Nitin Sharma ◽  
Dilip Dhamankar ◽  
Gururaj Naregal ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Facial Dysmorphism ◽  
Severe Mental Retardation ◽  
Renal Anomalies ◽  
Cardiac Defects ◽  
Congenital Cardiac Defects ◽  
Male Neonate ◽  
Emanuel Syndrome ◽  
Distinctive Phenotype

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

scholarly journals A newborn with Dubowitz syndrome: a case report

2014 ◽  
Author(s):  
Özkan İlhan ◽  
Senem Alkan ◽  
Yaşar Bekir Kublay ◽  
Esra Arun Özer
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Ventricular Septal Defect ◽  
Short Stature ◽  
Skin Eruption ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Recessive Disorder ◽  
Severe Mental Retardation ◽  
Dubowitz Syndrome

Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high narrow, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we heard the requirement to report this case because of rarity.

scholarly journals Down syndrome with congenital hydrocephalus: case report

2006 ◽  
Vol 64 (3b) ◽  
pp. 869-871 ◽  
Author(s):  
Cassiano Mateus Forcelini ◽  
Adroaldo Baseggio Mallmann ◽  
Paulo Sérgio Crusius ◽  
Cláudio Albano Seibert ◽  
Marcelo Ughini Crusius ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Case Report ◽  
Ventriculoperitoneal Shunt ◽  
Head Circumference ◽  
Genetic Disorder ◽  
Congenital Hydrocephalus ◽  
Dysmorphic Features ◽  
Abnormal Increase ◽  
Male Neonate

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome.

scholarly journals Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

2014 ◽  
Vol 7 (3) ◽  
pp. 221 ◽  
Author(s):  
Lalita Nemani ◽  
Ramachandra Barik ◽  
AmarNarayana Patnaik ◽  
RameshC Mishra ◽  
AmareshM Rao ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of Literature ◽  
Cardiac Defects ◽  
Congenital Cardiac Defects

scholarly journals Patellar Dislocation in a Patient with Kabuki Syndrome with Severe Mental Retardation: A Case Report

2019 ◽  
Vol 4 (0) ◽  
pp. n/a
Author(s):  
Satoshi Kamada ◽  
Etsuji Shiota ◽  
Toshiyuki Yamashita ◽  
Takahiko Kiyama ◽  
Kazuhiko Saeki ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Patellar Dislocation ◽  
Kabuki Syndrome ◽  
Severe Mental Retardation

scholarly journals Congenital Cardiac Defects, Such as Eustachian Valve, May Increase the Risk of Cryptogenic Stroke: A Case Report

2020 ◽  
Vol 10 (06) ◽  
pp. 379-384
Author(s):  
Chiara Bandinelli ◽  
Giovanni Maria Puddu ◽  
Anna Balducci ◽  
Giampaolo Bianchi ◽  
Marco Zoli
Keyword(s):  
Case Report ◽  
Cryptogenic Stroke ◽  
Cardiac Defects ◽  
Eustachian Valve ◽  
Congenital Cardiac Defects
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