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

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.

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.

Birth Defects following Levetiracetam Use in Pregnancy – A Case Report

2021 ◽  
Vol 1 (2) ◽  
Author(s):  
Mukul Pandey ◽  
◽  
Prerna Batra ◽  
Keyword(s):  
Case Report ◽  
Birth Defects ◽  
Congenital Anomalies ◽  
Teratogenic Effect ◽  
Multiple Congenital Anomalies ◽  
Probable Case ◽  
In Pregnancy

There is a lack of substantial data on the safety of Levetiracetam during pregnancy in the context of the potential teratogenic effect on the newborn. We report a probable case of levetiracetam birth defects in a newborn with multiple congenital anomalies.

The Fetal Alcohol Syndrome and Neuroblastoma

PEDIATRICS ◽  
1980 ◽  
Vol 66 (1) ◽  
pp. 130-132
Author(s):  
Hannah Kinney ◽  
Roger Faix ◽  
Jane Brazy
Keyword(s):  
Case Report ◽  
Neural Crest ◽  
Fetal Alcohol Syndrome ◽  
Diaphragmatic Hernia ◽  
Congenital Anomalies ◽  
Adrenal Carcinoma ◽  
Multiple Congenital Anomalies ◽  
Fetal Alcohol ◽  
Neural Crest Tumors

In 1977 Hornstein et al1 reported the occurrence of adrenal carcinoma in a child with fetal alcohol syndrome. Recently Seeler et al2 noted a ganglioneuroblastoma in a child with fetal hydantoin-alcohol syndromes. The association of neural crest tumors with fetal hydantoin syndrome now appears established.2 The following case suggests an association with neoplasia may also exist for fetal alcohol syndrome. CASE REPORT Clinical Summary T.E. was the 1,360 gm product of a 35-week gestation born to a 30-year old, black primigravida. At 11 days of age the patient was transferred to Duke Hospital for evaluation of multiple congenital anomalies and repair of a right-sided diaphragmatic hernia.

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