Results 181 to 190 of about 22,857 (208)

Dominantly inherited syndrome of microcephaly and congenital lymphedema

Clinical Genetics, 1985
A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.
Alexander K C Leung
exaly   +3 more sources

Methodologic issues in epidemiologic studies of congenital microcephaly

Early Human Development, 2002
In this methodological paper, we explore a number of issues that pose problems for those who seek the antecedents of congenital microcephaly. We pay particular attention to three concerns: Who is a case? How should cases be classified? To whom should cases be compared?
Alan Leviton, Lewis B Holmes, Juan Vargas   +2 more
exaly   +3 more sources

Molecular Genetic Analysis of Newborns with Congenital Microcephaly

Neonatology, 2022
<b><i>Introduction:</i></b> Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene <i>ASPM</i> in China remains unknown. <b><i>Methods:</i></b> Sixty-one neonates with CM who were hospitalized in the ...
Chang Ye, Hongfang Mei, Huiyao Chen, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, Liyuan Hu, Guoqiang Cheng, Wenhao Zhou, Lin Yang   +10 more
openaire   +2 more sources

Urological profile of children with microcephaly and congenital zika syndrome

Journal of Pediatric Urology, 2021
An outbreak of Zika virus disease, a self-limiting arbovirus infection involving skin rash and fever, occurred in Brazil in 2015 and was followed by an increase in newborns with microcephaly and brain malformations. Although two recent studies reported neurogenic bladder in children with microcephaly and congenital Zika syndrome (CZS), urologic ...
Ubirajara Barroso
exaly   +3 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

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

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 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