Neonatal toxicity and transient neurodevelopmental deficits following prenatal exposure to lithium: Another clinical report and a review of the literature

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

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Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Clinical Case Reports ◽

10.1002/ccr3.1783 ◽

2018 ◽

Vol 6 (11) ◽

pp. 2103-2110 ◽

Cited By ~ 3

Author(s):

Sofia Frisk ◽

Catherine Grandpeix-Guyodo ◽

Karin Popovic Silwerfeldt ◽

Helgi Thor Hjartarson ◽

Dimitris Chatzianastassiou ◽

...

Keyword(s):

Male Patient ◽

Clinical Report ◽

Review Of The Literature ◽

Goltz Syndrome

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Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature

Clinical Dysmorphology ◽

10.1097/00019605-200307000-00010 ◽

2003 ◽

Vol 12 (3) ◽

pp. 195-196 ◽

Cited By ~ 1

Author(s):

Anne M. Slavotinek ◽

Felicitas Lacbawan

Keyword(s):

Short Stature ◽

Interstitial Deletion ◽

Clinical Report ◽

Review Of The Literature ◽

Severe Short Stature ◽

Chromosome 13Q

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Pharmacoepidemiology of psychotropic drugs: examples of current research challenges on major public health issues

Epidemiologia e Psichiatria Sociale ◽

10.1017/s1121189x00000981 ◽

2009 ◽

Vol 18 (2) ◽

pp. 107-113 ◽

Cited By ~ 7

Author(s):

Hélène Verdoux ◽

Marie Tournier ◽

Bernard Bégaud

Keyword(s):

Public Health ◽

Prenatal Exposure ◽

Psychotropic Drugs ◽

Antipsychotic Drugs ◽

Population Level ◽

Health Issues ◽

Review Of The Literature ◽

Research Challenges ◽

The Impact

SummaryBackground– As a large number of persons are exposed to prescribed psychotropic drugs, their utilisation and impact should be further explored at the population level.Aims– To illustrate the interest of pharmacoepidemiological studies of psychotropic drugs by selected examples of major public health issues.Method– Selective review of the literature. Results – Many questions remain unsolved regarding the behavioural teratogenicity of prenatal exposure to psychotropic drugs, the impact of their increasing use in children, the long-term cognitive consequences of exposure to benzodiazepines, and the risks associated with extension of indications of antipsychotic drugs.Conclusion– Pharmacoepidemiological studies need to be further developed owing to the large number of public health questions raised by the extensive and expanding use of psychotropic drugs.

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