Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome
نویسندگان
چکیده
منابع مشابه
Sonographic prenatal diagnosis of congenital Marfan syndrome
Congenital Marfan syndrome is a rare and severe disease of the newborn, causing devastating and often fatal effects on the cardiovascular, pulmonary, and musculoskeletal systems. Familial mutations of FBN1 have been studied and identified in Marfan syndrome, but the congenital variant is often due to de novo mutations, limiting the diagnostic capabilities of genetic screening. Ultrasound is ess...
متن کاملHoloprosencephaly: A Case Report and Review of Prenatal Sonographic Findings
Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...
متن کاملNeonatal thyroid function: prematurity, prenatal steroids, and respiratory distress syndrome.
Indices of thyroid function were measured in 97 preterm infants at birth and at 5, 10, and 15 days of age. Triiodothyronine uptake, free thyroxine index, thyroxine, free thyroxine, triiodothyronine, reverse triiodothyronine, and thyroxine binding globulin values at birth correlated with gestational age, whereas thyroid stimulating hormone values did not. Treatment with steroids prenatally had n...
متن کاملPrenatal sonographic diagnosis of fetal valproate syndrome: a case report
BACKGROUND Prenatal exposure of mother to valproate (VPA) causes teratogenic effects in the fetus, namely fetal valproate syndrome (FVS). We report a case of fetal valproate syndrome rarely diagnosed by prenatal sonographic examination. CASE PRESENTATION Our patient was a female infant who was born to a 27-year-old nulliparous Japanese woman with epilepsy. The mother was diagnosed with infant...
متن کاملIchthyosis prematurity syndrome: a case report and review of known mutations.
Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct populat...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2012
ISSN: 0960-7692
DOI: 10.1002/uog.9014