scholarly journals Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case

2021 ◽  
Vol 1 (3) ◽  
Author(s):  
Sarut Chaisrisawadisuk ◽  
Nithiwat Vatanavicharn ◽  
Verayuth Praphanphoj ◽  
Peter J. Anderson ◽  
Mark H. Moore
Keyword(s):  
Genetic Testing ◽  
Conservative Treatment ◽  
Developmental Delay ◽  
Chromosome Abnormality ◽  
Unusual Presentation ◽  
Global Developmental Delay ◽  
Illustrative Case ◽  
Head Shape ◽  
Human Skull ◽  
Abnormal Head

BACKGROUNDSquamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.OBSERVATIONSThe authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12–1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality.LESSONSIsolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12–1p13.3 deletion.

scholarly journals Genetic testing in patients with global developmental delay/intellectual disabilities. A review

2015 ◽  
Vol 88 (3) ◽  
pp. 288-292 ◽  
Author(s):  
Diana Miclea ◽  
Loredana Peca ◽  
Zina Cuzmici ◽  
Ioan Victor Pop
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Developmental Disabilities ◽  
Developmental Delay ◽  
Chromosomal Abnormalities ◽  
Fragile X ◽  
Genetic Disorders ◽  
Global Developmental Delay ◽  
European Guidelines ◽  
High Prevalence

Genetic factors are responsible for up to 40 % developmental disability cases, such as global developmental delay/ intellectual disability (GDD/DI). The American and more recently, the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI. 

scholarly journals Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

2009 ◽  
Vol 47 (5) ◽  
pp. 332-341 ◽  
Author(s):  
M. Shinawi ◽  
P. Liu ◽  
S. H. L. Kang ◽  
J. Shen ◽  
J. W. Belmont ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Behavioural Problems ◽  
Head Size ◽  
Global Developmental Delay ◽  
Abnormal Head

scholarly journals Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists

2013 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
F. Cameron ◽  
J. Xu ◽  
J. Jung ◽  
C. Prasad
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome Analysis ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Unknown Etiology ◽  
Comparative Genomic ◽  
Illustrative Case ◽  
Genetic Syndromes ◽  
Copy Number Changes

Developmental delay occurs in 1–3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies.

scholarly journals 22q13.32 Deletion and Duplication and Inversion in the Same Family: A Rare Occurrence

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Farooqua Jafri ◽  
James Fink ◽  
Rodney R. Higgins ◽  
Raymond Tervo
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Early Infancy ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Rare Occurrence ◽  
Dysmorphic Features ◽  
Chromosome Imbalance ◽  
And Inversion ◽  
22Q13.3 Deletion Syndrome

Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32). A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features. His genetic testing revealed he had 22q13.3 duplication to the terminus. His 4 year old brother was noted in early infancy to have severe global developmental delay and dysmorphic features related to 22q13.3 deletion to the terminus. Their mother had a long inversion on her 22nd chromosome. Genetic tests for their father and eldest brother were unremarkable. The mother's inversion may rearrange to form 22q duplication or deletion when passed on to children. The chance of a child born with a chromosome imbalance is as high as 50%.

The Principle of Double Effect, Genetic Testing, and Global Developmental Delay

2009 ◽  
Vol 24 (8) ◽  
pp. 1030-1036
Author(s):  
Raymond C. Tervo ◽  
Paul Wojda
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Double Effect ◽  
Global Developmental Delay ◽  
Principle Of Double Effect

scholarly journals Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Female

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012445
Author(s):  
Darina Dinov ◽  
Gregory Vorona ◽  
Amy Harper
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Female Patient ◽  
Neurological Examination ◽  
Initial Evaluation ◽  
Global Developmental Delay ◽  
Mri Imaging ◽  
Child Neurology ◽  
Pediatric Neurology ◽  
Low Tone

POLR3- related disorders are rare hypo-myelinating leukodystrophies associated with hypodontia. We present a female patient, who was referred to pediatric neurology at 2 years of age for tremor, low tone, and motor delays. Additionally, she was noted to have a delay in her teeth eruption and myopia. Neurological examination was significant for ataxic features and global developmental delay. Laboratory workup was unrevealing. MRI imaging was significant for hypomyelination. Genetic testing confirmed a pathogenic variant of POLR3B. POLR3- related leukodystrophies should be considered in patients who present with hypotonia, ataxia and hypodontia. There are many different subtypes of POLR-related leukodystrophies each with distinguishing phenotypic and radiographic features. Although, MRI can be helpful in initial evaluation genetic testing is needed for confirmatory diagnosis and to guide prognosis.

scholarly journals Rett syndrome: a neurodevelopmental disorder

2019 ◽  
Vol 6 (4) ◽  
pp. 1757
Author(s):  
Setu Dagli ◽  
Arpita Thakker Adhikari ◽  
Mona Gajre
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Rett Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Neurodevelopmental Disorder ◽  
Hand Movements ◽  
Global Developmental Delay ◽  
Mecp2 Gene ◽  
Ataxic Gait

Rett Syndrome is a rare genetic disorder caused by a mutation on the MECP2 gene on the X chromosome. It classically presents with neuroregression, loss of purposeful hand use, stereotypical involuntary hand wringing movements, an ataxic gait and acquired microcephaly with a large proportion of patients developing seizures. The authors present the case of a 3.5 year old girl with severe global developmental delay and regression, loss of purposeful hand use and an ataxic gait for 2 years and seizures since 5 days along with microcephaly with involuntary hand movements but no classic wringing movements with no significant findings on MRI and EEG and diagnosed with Rett Syndrome on the basis of genetic testing.

BNS Epilepsy, Global Developmental Delay, Optic Coloboma, and Vesicoureteral Reflux as Leading Symptoms of COL4A1 Mutation: A Case Report

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
D. Osinski ◽  
Th. Leis ◽  
A. Abicht ◽  
R. Trollmann
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Vesicoureteral Reflux ◽  
Global Developmental Delay

DIAGNOSING SOTOS SYNDROME IN THE SETTING OF GLOBAL DEVELOPMENTAL DELAY AND MACROCEPHALY

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
M Srour ◽  
B Mazer ◽  
M Shevell
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Sotos Syndrome
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