scholarly journals A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
C. S. Paththinige ◽  
N. D. Sirisena ◽  
U. G. I. U. Kariyawasam ◽  
R. C. Ediriweera ◽  
P. Kruszka ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Partial Trisomy ◽  
Review Of Literature ◽  
Multiple Congenital Anomalies ◽  
Balanced Translocation

scholarly journals Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Wang ◽  
Shiyuan Zhou ◽  
Fei He ◽  
Xuelian Zhang ◽  
Jianqi Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Critical Region ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies ◽  
Microdeletion Syndrome ◽  
Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

scholarly journals Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
R. Mishra ◽  
C. S. Paththinige ◽  
N. D. Sirisena ◽  
S. Nanayakkara ◽  
U. G. I. U. Kariyawasam ◽  
...  
Keyword(s):  
Case Report ◽  
Partial Trisomy ◽  
Review Of Literature ◽  
Balanced Translocation

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

2000 ◽  
Vol 16 (3) ◽  
pp. 0176 ◽  
Author(s):  
M. C. Esmer ◽  
G. Rodriguez-Soto ◽  
D. Carrasco-Daza ◽  
M. L. Iracheta ◽  
V. Del Castillo
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
In Utero ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Cloverleaf Skull

Fetal Minoxidil Exposure

PEDIATRICS ◽  
1987 ◽  
Vol 80 (1) ◽  
pp. 120-120
Author(s):  
FRANZ W. ROSA ◽  
JUHANA IDANPAAN-HEIKKILA ◽  
RITA ASANTI
Keyword(s):  
Case Report ◽  
Drug Administration ◽  
Birth Defects ◽  
Drug Safety ◽  
Congenital Anomalies ◽  
Drug Exposure ◽  
Spontaneous Abortions ◽  
Multiple Congenital Anomalies ◽  
Exposure Data ◽  
National Drug

To the Editor.— Kaler et al (Pediatrics 1987;79:434-436) provided a case report of hypertrichosis and multiple congenital anomalies with maternal minoxidil use. Reports such as this contribute to alerting national drug safety offices of possible teratologic questions. Maternal drug exposure data, since 1979 when minoxidil was marketed, is available to the Food and Drug Administration (FDA) from 73,000 pregnancies (15,600 birth defects, 4,400 spontaneous abortions, and 53,000 normal outcomes). This yields, in addition to the report by Kaler et al, only two other births with maternal minoxidil exposures:

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.

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)—a case report and a family study

2002 ◽  
Vol 45 (3) ◽  
pp. 143-146 ◽  
Author(s):  
Barbara Wysocka ◽  
Izabela Brożek ◽  
Jolanta Wierzba ◽  
Iwona Kardaś ◽  
Agnieszka Woźniak ◽  
...  
Keyword(s):  
Case Report ◽  
Family Study ◽  
Partial Trisomy ◽  
Balanced Translocation ◽  
Partial Monosomy

scholarly journals De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

2010 ◽  
Vol 13 (1) ◽  
pp. 35-37
Author(s):  
F Nasiri ◽  
F Mahjoubi ◽  
G Babamohammadi
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Upper Lip ◽  
Upper Eyelid ◽  
Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

scholarly journals How to Suspect and Manage an Hypoplasic Gallbladder: A Case Report and Review of Literature

2020 ◽  
pp. 1-3
Author(s):  
David Martínez Cecilia ◽  
Anna Trinidad Borràs ◽  
Jara Hernández Gutiérrez ◽  
David Martínez Cecilia
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Magnetic Resonance ◽  
Congenital Anomalies ◽  
Imaging Techniques ◽  
Magnetic Resonance Cholangiopancreatography ◽  
Biliary Colic ◽  
Review Of Literature ◽  
Persistent Abdominal Pain ◽  
Decisional Algorithm

Background: Malformations related to the gallbladder are uncommon, with an incidence lower than 0,1%. The majority of them are asymptomatic, however when symptoms appear are non-specific with a similar presentation to biliary colic. Methods: We report a case of a 29-year-old woman with persistent upper right abdominal pain and no visualization of the gallbladder in the ultrasound (US), CT scan or in the magnetic resonance cholangiopancreatography (MRCP). Results: A laparoscopic exploration was performed due to persistent abdominal pain which confirmed an hypoplasic gallbladder. After cholecystectomy, symptoms were relieved. Herein we propose a decisional algorithm when suspecting a gallbladder with agenesis or hypoplasia. Conclusion: Surgeons need to take into consideration congenital anomalies of the gallbladder. Performing imaging techniques is important in order not to misdiagnose hypoplasia.

scholarly journals Urolithiasis – a chronic and recurrent disease in a girl with multiple congenital anomalies and cerebral palsy– case report

2019 ◽  
pp. 37-41
Author(s):  
E. Wajszczuk ◽  
◽  
M. Szymanek-Szwed ◽  
J. Samotyjek ◽  
K. Jobs ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Case Report ◽  
Congenital Anomalies ◽  
Recurrent Disease ◽  
Multiple Congenital Anomalies
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