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 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 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 R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

Partial trisomy 4q and monosomy 9p in a girl with severe mental retardation, multiple anomalies and congenital hypoglycaemia

2007 ◽  
Vol 82 (3) ◽  
pp. 239-241
Author(s):  
Anna Lauda-Świeciak ◽  
Olga Haus ◽  
Danuta Kurylak ◽  
Ewa Duszeńko ◽  
Krystyna Soszyńska
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Severe Mental Retardation

HEAD CIRCUMFERENCE, MENTAL RETARDATION, AND GROWTH FAILURE

PEDIATRICS ◽  
1965 ◽  
Vol 36 (1) ◽  
pp. 62-66
Author(s):  
Edward J. O'Connell ◽  
Robert H. Feldt ◽  
Gunnar B. Stickler
Keyword(s):  
Mental Retardation ◽  
Head Circumference ◽  
Growth Failure ◽  
Clinical Impression ◽  
Severe Mental Retardation ◽  
Small Head ◽  
The Mean ◽  
Standard Deviations ◽  
Mental Subnormality ◽  
Age And Sex

The purpose of this study was to re-affirm our clinical impression that non-institutionalized children whose head circumference was below minus 2 standard deviations were mentally subnormal and frequently had growth failure. A group of 134 children with a head circumference below minus 2 standard deviations from the mean were studied, and all but one were mentally subnormal. The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below. We found, as have others, that children with mental retardation have height and weights below the expected norm and that children with a head circumference below minus 2 standard deviations have even lower mean heights and weights. The head circumference of 31 children with growth failure and normal intelligence was normal for age and sex, therefore disproving the concept that the abnormally small child has a proportionally small head. In the child with growth failure, should the head be proportionally small (below minus 2 standard deviations), mental subnormality should be suspected. We feel that the head circumference measurement has taken on new clinical significance in that our data support its use in suspecting the association of mental subnormality in children with growth failure and a head circumference of below minus 2 standard deviations from the mean for age and sex.

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