Results 201 to 210 of about 290,347 (229)

Craniofacial Cases: Congenital Microcephaly

Sonja A. Rasmussen
exaly   +2 more sources

Mutant deoxynucleotide carrier is associated with congenital microcephaly

Nature Genetics, 2002
The disorder Amish microcephaly (MCPHA) is characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine and premature death. The disorder is inherited in an autosomal recessive pattern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County, Pennsylvania.
ROSENBERG M. J., AGARWALA R., BOUFFARD G., DAVIS J., HILLIARD M. S., KOCH T., KALIKIN L. M., MAKALOWSKA I., MORTON D. H., PETTY E. M., WEBER J. L., PALMIERI F., KELLEY R. I., SCHAFFER A. A., BIESECKER L. G., FIERMONTE, Giuseppe   +15 more
openaire   +2 more sources

Severe Microcephaly Associated with Congenital Varicella Infection

Developmental Medicine & Child Neurology, 1991
SUMMARYA case of second‐trimester congenital varicella infection, in association with isolated microcephaly and severe brain damage, is reported, and cases of classical congenital varicella syndrome are compared on a clinical and immunological basis. This case, together with others cited in the literature, suggests that congenital varicella infection ...
I E, Scheffer, M, Baraitser, E M, Brett
openaire   +2 more sources

Ocular findings of congenital Zika virus infection with microcephaly

International Ophthalmology, 2022
To describe ocular findings in infants with signs of congenital Zika virus syndrome (CZS) in Paraíba, Brazil, as well as to conduct a literature review and report correlations with published clinical cases.In the Paraíba sample, infants with microcephaly suggestive of CZS were classified as Z (confirmed), PZ (probable), or SZ (suspected) according to ...
Cristiane Bezerra da Cruz, Costa, Denise, Freitas   +1 more
openaire   +2 more sources

CONGENITAL RETINAL FOLDS AND MICROCEPHALY

Archives of Ophthalmology, 1941
A congenital retinal fold is an anomaly characterized by a fold of retina which projects into the vitreous. It usually extends from the optic disk to the ora serrata. Microscopic studies show imperfect development of the layers of the retina within and without the fold.
openaire   +1 more source

Congenital microcephaly and infantile nephrotic syndrome ? a case report

Pediatric Nephrology, 1994
A 22-month-old girl with nephrotic syndrome and microcephaly is described. She had dysmorphic facies and psychomotor retardation. Her parents were first-degree relatives and one of her siblings had died with nephrotic syndrome and renal failure in infancy. An autosomal recessive inheritance is suggested.
F, Yalçinkaya, N, Tümer, M, Ekim, S, Kuyucu, N, Cakar, C, Ensari   +5 more
openaire   +2 more sources

Congenital Microcephaly Due to Vascular Disruption: In Utero Documentation

Pediatrics, 1986
Death in utero of one member of a monozygotic twin pair has been associated with vascular disruptive phenomena in the surviving twin. It has been hypothesized that this event initiates clot formation in the surviving twin with consequent necrosis of tissues distal to the occluded vessels.
H E, Hughes, M, Miskin
openaire   +2 more sources

Congenital microcephaly hospitalizations in California infants: 1999–2013

Birth Defects Research, 2019
AbstractIntroductionPopulation‐level changes in microcephaly incidence risk (IR) could signal circulation of neurotropic pathogens or potential emerging teratogen exposure.MethodsIn this retrospective population cohort study, we estimated the IR of hospitalizations with a microcephaly ICD‐9‐CM discharge diagnosis code among infants ≤1 year over a 15 ...
Maya R. Krasnow, Yvonne A. Maldonado, Despina G. Contopoulos‐Ioannidis   +2 more
openaire   +2 more sources

Risk factors for congenital microcephaly in the pre‐Zika era

Birth Defects Research, 2018
BackgroundThe Zika epidemic has brought increased attention to congenital microcephaly as a birth outcome. However, little is known about risks for microcephaly unrelated to Zika.MethodsUsing data from the Slone Epidemiology Center Birth Defects Study from 1993 to 2015, we identified 57 cases of microcephaly alone (“isolated”) and 109 cases of ...
Stephen M. Kerr, Carla M. Van Bennekom, Allen A. Mitchell   +2 more
openaire   +2 more sources

Observations on congenital dentofacial disorders in Mongolism and microcephaly

Oral Surgery, Oral Medicine, Oral Pathology, 1967
Abstract The clinical and radiologic aspects of congenital dentofacial defects as they occur in Down's syndrome (mongolism) are briefly described. Evidence is submitted to support the belief that the changes noted in these patients are congenital and possibly genetic in origin.
openaire   +2 more sources