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Case report: Multiorgan involvement with congenital zika syndrome
(American Society of Tropical Medicine and Hygiene, 2020)
We report the case of an infant born with congenital Zika syndrome (CZS). During the largest Zika virus (ZIKV) outbreak in Peru, the mother presented with fever and rash that were confirmed to be due to ZIKV by real-time ...
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2000)
Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters
(Karger, 1979-01-01)
Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature ...
Fetal Diagnosis of Scimitar Syndrome in the Presence of Complex Congenital Heart Disease.
(Springer, 2022)
Fetal diagnosis of scimitar syndrome requires a high index of suspicion. We present two fetal cases of complex congenital heart disease associated with scimitar syndrome, one of them is diagnosed with scimitar syndrome ...
Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome
(American Academy of Pediatrics, 2013-02)
OBJECTIVE: The aim of this study was to assess the prevalence of congenital defects observed in patients with Prader-Willi syndrome (PWS) and to compare this prevalence with that described in the general population. In ...
Sindrome das bandas ou constricoes amnioticas: Relato de caso
(1997-03-01)
The authors present a case of constriction band syndrome in a 20-year-old male. There were constriction rings in the interphalangeal joints of hands and in the thigh, shortening of the lower limb and atrophic left gastrocnemius ...
Sindrome das bandas ou constricoes amnioticas: Relato de caso
(1997-03-01)
The authors present a case of constriction band syndrome in a 20-year-old male. There were constriction rings in the interphalangeal joints of hands and in the thigh, shortening of the lower limb and atrophic left gastrocnemius ...
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
(Sociedad de Biología de Chile, 2009)