Four-Vessel Umbilical Cord Associated with Multiple Congenital Anomalies: A Case Report and Literature Review

2011 ◽  
Vol 30 (2) ◽  
pp. 98-105 ◽  
Author(s):  
Surasak Puvabanditsin ◽  
Eugene Garrow ◽  
Mayoor Bhatt ◽  
Suganya Kathiravan ◽  
Sharada Gowda ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Umbilical Cord ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies

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 Scaphoid Fracture in a Patient with a Scaphotrapezial Synostosis: A Case Report and Literature Review

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Soliman Noureldin ◽  
Mohammed Ali ◽  
Farshid Fallahi ◽  
Thomas Dehler
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Literature Review ◽  
Congenital Anomalies ◽  
Scaphoid Fracture ◽  
Multiple Congenital Anomalies ◽  
Proximal Pole ◽  
Left Wrist ◽  
Hereditary Syndrome ◽  
Satisfactory Outcome

Introduction. Scaphotrapezial synostosis has been rarely reported in the literature and only one case underwent surgical treatment for scaphoid fracture. Presentation of Case. A 15-year-old male presented with a painful left wrist following a fall. The initial radiographs showed a displaced scaphoid proximal pole fracture and a Scaphotrapezial synostosis. The fracture was then fixed percutaneously with satisfactory outcome. Discussion. Scaphotrapezial synostoses are very rare and most found in patients with multiple congenital anomalies or as part of a hereditary syndrome. They have previously been reported; however, we found only one case reporting a concomitant scaphoid fracture. Conclusion. This is the second case of its kind to report surgical treatment of scaphoid fracture associated with a congenital Scaphotrapezial synostosis.

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

Chronic Peroneal Tendon Subluxation Produced by an Anomalous Peroneus Brevis: Case Report and Literature Review

Foot & Ankle ◽  
1989 ◽  
Vol 10 (1) ◽  
pp. 45-47 ◽  
Author(s):  
Warren A. Hammerschlag ◽  
J. Leonard Goldner
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Congenital Anomalies ◽  
Present Report ◽  
Peroneal Tendon ◽  
Anatomical Studies ◽  
Peroneal Tendons ◽  
Symptomatic Case ◽  
Peroneus Brevis ◽  
Time Of Operation

Although congenital anomalies of the peroneal muscles have been well documented from anatomical studies, only a single clinically symptomatic case has been previously reported. In the present report, a previously unreported variation of the peroneus brevis, a bifid peroneus brevis, is described. This variation contributed to chronic subluxation of the peroneal tendons. Diagnosis was made at the time of operation, and resection of the duplicated tendon and reinforcement of the peroneal retinaculum relieved the symptoms of the patient.

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 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.

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