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

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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46, XX Gonadal Agenesis in a Neonate with Multiple Congenital Anomalies: Case Report and Review of the Literature

Pediatric Pathology ◽

10.3109/15513819409037693 ◽

1994 ◽

Vol 14 (6) ◽

pp. 967-972 ◽

Cited By ~ 4

Author(s):

Calvin E. Oyer ◽

Donald Ramos ◽

Toru Shoji ◽

Umadevi Tantravahi

Keyword(s):

Case Report ◽

Congenital Anomalies ◽

Review Of The Literature ◽

Multiple Congenital Anomalies ◽

Gonadal Agenesis

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Successful in utero Percutaneous Fetoscopic Release of a Wrapped Pleuro-Amniotic Shunt around the Fetal Arm: Case Report and Review of the Literature

Fetal Diagnosis and Therapy ◽

10.1159/000450606 ◽

2016 ◽

Vol 43 (2) ◽

pp. 156-160 ◽

Cited By ~ 2

Author(s):

Ahmed A. Nassr ◽

Rodrigo Ruano ◽

Jimmy Espinoza ◽

Alireza A. Shamshirsaz

Keyword(s):

Case Report ◽

In Utero ◽

Review Of The Literature

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Fetal Minoxidil Exposure

PEDIATRICS ◽

10.1542/peds.80.1.120 ◽

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:

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Cardiofaciocutaneus syndrome: literature review and case report

Neuromuscular Diseases ◽

10.17650/2222-8721-2018-8-4-49-53 ◽

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.

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Successful management of short gut due to vanishing gastroschisis – case report and review of the literature

Annals of The Royal College of Surgeons of England ◽

10.1308/147870810x12659688852437 ◽

2010 ◽

Vol 92 (5) ◽

pp. e10-e13 ◽

Cited By ~ 9

Author(s):

BA Khalil ◽

JC Gillham ◽

L Foresythe ◽

R Harding ◽

T Johnston ◽

...

Keyword(s):

Case Report ◽

Parenteral Nutrition ◽

High Mortality ◽

In Utero ◽

Review Of The Literature ◽

Successful Management ◽

Bowel Surgery

Vanishing gastroschisis is a rare in utero complication of gastroschisis. It is associated with a high mortality. We present a case report of an infant with vanishing gastroschisis that was managed with a combination of reconstructive bowel surgery and hepatosparing parenteral nutrition. The technique is described and a review of the literature is provided.

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