scholarly journals An encounter with alobar holoprosencephaly: a case report

2020 ◽  
Vol 9 (7) ◽  
pp. 3069
Author(s):  
Prasanna Venugopalan ◽  
Fathima Mithilag ◽  
Vidhu V. Nair
Keyword(s):  
Pregnancy Termination ◽  
Recurrence Risk ◽  
Neurological Impairment ◽  
Cerebral Hemispheres ◽  
Facial Dysmorphism ◽  
Obstetric Ultrasound ◽  
Key Features ◽  
Diagnostic Modalities ◽  
Ocular Hypertelorism ◽  
Foetal Mri

Alobar holopresencephaly is a rare embryonic condition where there is anomalous fusion of cerebral hemispheres. The key features include neurological impairment and facial dysmorphism like cyclopia, ocular hypertelorism with divided orbits and a proboscis. Obstetric ultrasound and foetal MRI are the diagnostic modalities. Majority of cases are sporadic in origin while a genetic association is also described. A small recurrence risk is noted in cases with sporadic origin. Early diagnosis and pregnancy termination are advisable for the condition since the survival rate is very low.

scholarly journals Middle interhemispheric variant of holoprosencephaly in an asymptomatic adult

2019 ◽  
Vol 5 (4) ◽  
pp. 20190035
Author(s):  
Meltem Özdemir ◽  
Aynur Turan ◽  
Rasime Pelin Kavak
Keyword(s):  
Early Childhood ◽  
Unusual Case ◽  
Motor Dysfunction ◽  
Cerebral Hemispheres ◽  
Facial Dysmorphism ◽  
Motor Retardation ◽  
Asymptomatic Adult ◽  
Occipital Lobes

Middle interhemispheric variant of holoprosencephaly is an uncommon subtype of holoprosencephaly which is characterized by a midline connection of the two cerebral hemispheres in the posterior frontal and parietal regions with the separation of the anterior frontal and occipital lobes. It usually presents in early childhood with facial dysmorphism, seizures, motor dysfunction and mental–motor retardation. We herein present an unusual case of middle interhemispheric variant of holoprosencephaly which was asymptomatic and incidentally found in adulthood.

scholarly journals Antenatal Diagnosis of Alobar Holoprosencephaly

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Rajesh Raman ◽  
Geetha Mukunda Jagadesh
Keyword(s):  
Ultrasound Examination ◽  
Antenatal Diagnosis ◽  
Early Stage ◽  
Pregnancy Termination ◽  
Fetal Mri ◽  
Classical Case ◽  
Psychological Trauma ◽  
Vital Role ◽  
Obstetric Ultrasound ◽  
Live Fetus

A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue resolution. The importance of presenting this classical case of alobar holoprosencephaly is to sensitize the clinicians and radiologists to the imaging manifestations of holoprosencephaly and to stress the importance of early diagnosis. If diagnosed in utero at an early stage of pregnancy, termination can be performed and maternal psychological trauma of bearing a deformed fetus can be avoided.

Syndactyly

2019 ◽  
pp. 223-228
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Clinical Case ◽  
Recurrence Risk ◽  
Background Information ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomaly ◽  
Case Presentation ◽  
Bony Fusion ◽  
Common Causes ◽  
Incidence Risk ◽  
Associated Malformations

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, epidemiology, and some subtypes of syndactyly. Various unilateral and bilateral patterns of syndactyly, including common autosomal dominant isolated cutaneous syndactyly and rarer presentations of complex syndactyly with bony fusion, are reviewed. Associated malformations, such as small size, microcephaly, craniosynostois, facial dysmorphism, and other limb anomalies, that are often seen with syndactyly are presented. The discussion on the differential diagnosis of syndactyly summarizes its common causes, including teratogenic agents, chromosome anomalies, and Mendelian multiple congenital anomaly syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with oculo-dento-digital dysplasia.

Correlation of trisomy 13 with atelencephalic aprosencephaly

Pteridines ◽  
2015 ◽  
Vol 26 (1) ◽  
pp. 37-40
Author(s):  
Tanya Kitova ◽  
Borislav Kitov ◽  
Nahed Ben Cheikh ◽  
Soumeya Siala Gaigi
Keyword(s):  
Optic Nerve ◽  
Pregnancy Termination ◽  
Cerebral Hemispheres ◽  
Trisomy 13 ◽  
Brain Abnormality ◽  
Rare Phenotype ◽  
Gestational Week ◽  
Future Pregnancy ◽  
Hereditary Nature ◽  
Genotype Correlation

AbstractA rare phenotype-genotype correlation of atelencephalic aprosencephaly in a fetus with free trisomy 13 karyotype, obtained by pregnancy termination for holoprosencephaly during the 26th gestational week, is presented. Lack of cerebral hemispheres and presence of rudimentary diencephalon, brain stem and hypoplastic cerebellum were revealed. Agenesis of the eyeball, of the optic nerve and of the pyramids of the medulla oblongata was established. Skull and face examination found craniostenosis, microcephaly, cella turcica agenesis, cyclopia, cleft palate and nose agenesis.The correlation between the most common karyotype of trisomy 13 and the very rare brain abnormality atelencephalic aprosencephaly suggests that the study of parental karyotype is desirable to inform parents about its accidental and non-hereditary nature in a probable future pregnancy.

scholarly journals P02.01: Recurrence risk estimation after pregnancy termination based on sonographic detection of serious CNS anomalies

2005 ◽  
Vol 26 (4) ◽  
pp. 382-382
Author(s):  
A. Kaasen ◽  
T. Prescott ◽  
A. Heiberg ◽  
H. Scott ◽  
G. Haugen
Keyword(s):  
Risk Estimation ◽  
Pregnancy Termination ◽  
Recurrence Risk ◽  
Cns Anomalies

Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies

2020 ◽  
Vol 160 (10) ◽  
pp. 579-588
Author(s):  
Martha L. Ornelas-Arana ◽  
Guillermo Pérez-Garcia ◽  
Carla D. Robles-Espinoza ◽  
Martha M. Rangel-Sosa ◽  
Carolina Castaneda-Garcia ◽  
...  
Keyword(s):  
De Novo ◽  
Clinical Manifestations ◽  
Recurrence Risk ◽  
Female Child ◽  
Clinical Findings ◽  
Facial Dysmorphism ◽  
End Joining ◽  
Position Effects ◽  
Genomic Characterization

“Simple” 1-way interchromosomal insertions involving an interstitial 1q segment are rare, and therefore, their characterization at the base pair level remains understudied. Here, we describe the genomic characterization of a previously unreported de novo interchromosomal insertion (3;1) entailing an about 12-Mb pure gain of 1q21.3q23.3 that causes typical (microcephaly, developmental delay, and facial dysmorphism) and atypical (interauricular communication, small feet with bilateral deep plantar creases, syndactyly of II-IV toes, and mild pachyonychia of all toes) clinical manifestations associated with this region. Based on our analyses, we hypothesize that the duplication of a subset of morbid genes (including <i>LMNA</i>, <i>USF1</i>, <i>VANGL2</i>, <i>LOR</i>, and <i>POGZ</i>) could account for most clinical findings in our patient. Furthermore, the apparent disruption of a promoter region (between <i>CPNE9</i> and <i>BRPF1</i>) and a topologically associated domain also suggests likely pathogenic reconfiguration/position effects to contribute to the patient’s phenotype. In addition to further expanding the clinical spectrum of proximal 1q duplications and evidencing the phenotypical heterogeneity among similar carriers, our genomic findings and observations suggest that randomness – rather than lethality issues – may account for the paucity of “simple” interchromosomal insertions involving the 1q21.3q23.3 region as genomic donor and distal 3p25.3 as receptor. Moreover, the microhomology sequence found at the insertion breakpoint is consistent with a simple nonhomologous end-joining mechanism, in contrast to a chromothripsis-like event, which has previously been seen in other nonrecurrent insertions. Taken together, the data gathered in this study allowed us to inform this family about the low recurrence risk but not to predict the reproductive prognosis for hypothetical carriers. We highlight that genomic-level assessment is a powerful tool that allows the visualization of the full landscape of sporadic chromosomal injuries and can be used to improve genetic counseling.

Pregnancy outcome in patients exposed to direct oral anticoagulants - and the challenge of event reporting

2016 ◽  
Vol 116 (10) ◽  
pp. 651-658 ◽  
Author(s):  
Franziska Michalski ◽  
Luise Tittl ◽  
Saskia Middeldorp ◽  
Hannah Cohen ◽  
Rezan Abdul Kadir ◽  
...  
Keyword(s):  
Pregnancy Outcome ◽  
Pregnancy Termination ◽  
Vitamin K Antagonists ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Outcome Data ◽  
Reproductive Age ◽  
Facial Dysmorphism ◽  
Patient Counselling ◽  
In Pregnancy

SummaryToday, direct oral anticoagulants (DOAC) are widely used alternatives to Vitamin-K antagonists (VKA). Women of reproductive age may become pregnant during anticoagulation and, while VKA carry an embryotoxic potential, the risk of DOAC embryopathy is unknown. As a result, some patients elect to terminate pregnancy for fear of DOAC embryotoxicity. To assess the risk of DOAC embryopathy, we reviewed cases of DOAC exposure in pregnancy collected from physicians, literature and pharmacovigilance systems of drug authorities and manufacturers. A total of 357 reports including duplicates were available from which 233 unique cases could be identified. Information on pregnancy outcome was available in only 137/233 cases (58.8 %): 67 live births (48.9 %); 31 miscarriages (22.6 %); 39 elective pregnancy terminations (28.5 %). In 93 cases (39.9 %) no outcome data were available (including 3 cases of ongoing pregnancy). Of the 137 pregnancies with reported outcomes, seven showed abnormalities (5.1 %) of which three (2.2 %) could potentially be interpreted as embryopathy: live birth with facial dysmorphism; miscarriage in week 10 with limb abnormality; elective pregnancy termination due to a foetal cardiac defect in a woman who had to terminate a previous pregnancy due to Fallot tetralogy. Within its limitations (small numbers, incomplete outcome data) our results do not indicate that DOAC exposure in pregnancy carries a high risk of embryopathy or that DOAC exposure per se should be used to direct patient counselling towards pregnancy termination. Pregnancy outcome data are inconsistently captured in pharmacovigilance databases indicating the strong need for a more robust system of reporting.Supplementary Material to this article is available online at www.thrombosis-online.com.

SLC35A2-CDG: novel variants with two ends of the spectrum

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Çiğdem Seher Kasapkara ◽  
Ahmet Cevdet Ceylan ◽  
Hamit Özyürek ◽  
Gülhan Karakaya Molla ◽  
Burcu Civelek Ürey ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Cerebellar Atrophy ◽  
Cerebral Atrophy ◽  
Failure To Thrive ◽  
Neurological Impairment ◽  
Female Child ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Main Concern ◽  
Novel Variants

Abstract Objectives Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. SLC35A2-CDG is a rare form of CDG caused by mutations in the X-linked gene that encodes a UDP-Galactose transporter. The manifestations of the disease include seizures, failure to thrive, delayed myelination, and cerebral atrophy. Case presentation We describe herein a severe female child with intractable seizures, microcephaly, growth retardation, hypotonia, global developmental delay, facial dysmorphism, skeletal findings, cerebral/cerebellar atrophy, and thin corpus callosum, and a mildly affected male carrying a novel variant with seizures and mild global developmental delay who were found by whole exome sequencing (WES) for SLC35A2 mutations previously not reported. Conclusions Our findings expand the number of reported cases and add novel variants to the repertoire of SLC35A2-CDG.

Central Nerve System Impairment, AMA Guides, Sixth Edition: An Overview

2018 ◽  
Vol 23 (1) ◽  
pp. 10-13
Author(s):  
James B. Talmage ◽  
Jay Blaisdell
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Neurological Impairment ◽  
Sixth Edition ◽  
Central Nerve System ◽  
The Central Nervous System ◽  
The One ◽  
Nerve System ◽  
The Brain

Abstract Injuries that affect the central nervous system (CNS) can be catastrophic because they involve the brain or spinal cord, and determining the underlying clinical cause of impairment is essential in using the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), in part because the AMA Guides addresses neurological impairment in several chapters. Unlike the musculoskeletal chapters, Chapter 13, The Central and Peripheral Nervous System, does not use grades, grade modifiers, and a net adjustment formula; rather the chapter uses an approach that is similar to that in prior editions of the AMA Guides. The following steps can be used to perform a CNS rating: 1) evaluate all four major categories of cerebral impairment, and choose the one that is most severe; 2) rate the single most severe cerebral impairment of the four major categories; 3) rate all other impairments that are due to neurogenic problems; and 4) combine the rating of the single most severe category of cerebral impairment with the ratings of all other impairments. Because some neurological dysfunctions are rated elsewhere in the AMA Guides, Sixth Edition, the evaluator may consult Table 13-1 to verify the appropriate chapter to use.

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