scholarly journals A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

2020 ◽  
Vol 11 (1) ◽  
pp. 30-37 ◽  
Author(s):  
Christiane M. Neuhofer ◽  
Rudolf Funke ◽  
Bernd Wilken ◽  
Alexej Knaus ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Novel Mutation ◽  
Gingival Hyperplasia ◽  
Multiple Congenital Anomalies ◽  
Seizure Syndrome ◽  
Severe Epilepsy

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

Monitoring for new multiple congenital anomalies in the search for human teratogens

1993 ◽  
Vol 46 (4) ◽  
pp. 460-466 ◽  
Author(s):  
Muin J. Khoury ◽  
Lorenzo Botto ◽  
Grady D. Waters ◽  
Pierpaolo Mastroiacovo ◽  
Eduardo Castilla ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Multiple Congenital Anomalies

Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies

Gene ◽  
2015 ◽  
Vol 559 (1) ◽  
pp. 94-98 ◽  
Author(s):  
Sushil Kumar Jaiswal ◽  
Ashok Kumar ◽  
Akhtar Ali ◽  
Amit Kumar Rai
Keyword(s):  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Isochromosome 18P

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:

PSEUDOHERMAPHRODITISM WITH MULTIPLE CONGENITAL ANOMALIES

PEDIATRICS ◽  
1955 ◽  
Vol 16 (3) ◽  
pp. 363-371
Author(s):  
Edgar J. Schoen ◽  
Alexander L. King ◽  
A. LaMont Baritell ◽  
William F. Knigge
Keyword(s):  
Congenital Anomalies ◽  
Male Pseudohermaphroditism ◽  
Turner's Syndrome ◽  
Multiple Congenital Anomalies ◽  
Turner’S Syndrome

The present paper reports a case of probable male pseudohermaphroditism in combination with multiple congenital anomalies. The management of the case and the possible relationship to "Turner's syndrome" are discussed.

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