| Fetal intracranial calcification: pseudo-TORCH phenotype and discussion of related phenotypes. | |
| | |
MedLine Citation:
|
PMID: 20358603 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Fetal intracranial calcification (ICC) noted during antenatal imaging poses a diagnostic challenge. Although this presentation is most commonly associated with intrauterine infection, non-infectious causes of fetal ICC have been reported and include metabolic, genetic, or hemodynamic conditions. We report on a patient with antenatally detected extensive ICC, in whom postnatal imaging revealed a distinctive band-like ICC with abnormal gyral pattern and a negative serology for TORCH infections. Such a constellation of findings have been previously described under the terminology of "pseudo-TORCH phenotype," and we posit that our patient represents this entity. Our patient had unreported dysmorphic features, which expands the phenotypic spectrum of this recently described heterogenous condition. In addition we report on the progression of the phenotype both clinically and radiologically. In view of the limited information available for the differential diagnosis of fetal ICC, we also review the available literature on this topic. |
| | |
Authors:
|
Akhil Muralidhar Kulkarni; Shankar Baskar; Muralidhar Laxmanrao Kulkarni; Abhishek Jayateerth Kulkarni; Amit Vasanth Mahuli; Suhasini Vittalrao; Preethi Muralidar Kulkarni |
Related Documents
:
|
876543 - Fetal bradycardia without fetal distress: case presentation and review of the literature. 7253003 - Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isoch... 19893983 - Cryptococcal meningitis in hiv negative pregnant women: case report and review of liter... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Apr |
Date Detail:
|
Created Date: 2010-04-01 Completed Date: 2010-07-08 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 930-7 Citation Subset: IM |
Copyright Information:
|
(c) 2010 Wiley-Liss, Inc. |
Affiliation:
|
Department of Radiology, JJMMC, Davangere, Karnataka, India. kulkarniml@yahoo.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
radiography,
ultrasonography* Adult Autopsy Brain / abnormalities*, radiography Calcinosis / complications, radiography, ultrasonography* Child, Preschool Female Fetal Diseases / radiography, ultrasonography* Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Phenotype Pregnancy Syndrome Tomography, X-Ray Computed Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelat...
Next Document: Familial Aicardi-Gouti?res syndrome due to SAMHD1 mutations is associated with chronic arthropathy a...