Prenatal Sonographic Features of Fraser Syndrome with Multiple Craniofacial Abnormalities: A Case Report

ثبت نشده
چکیده

Submit Manuscript | http://medcraveonline.com of this syndrome is estimated below 0.04 per 10.000 live born infants and 1.1 in 10.000 stillbirths [2]. It is mainly characterized by variable expressions of cryptophthalmos, syndactyly, abnormal genitalia, laryngeal malformations and urogenital defects [2-4]. Antenatally diagnosed cases had more manifestations result in a pathological amount of amniotic fluid [3]. Prenatal diagnosis is getting more difficult in the case of inconstant and variable sonographic findings especially when oligohydramnios and a healthy previous sib are presented [2,5]. Oligohydramnios can occur at any time during pregnancy, it is most common during the last trimester but its occurrence in earlier in pregnancy has poorer prognosis with about 80-90% mortality rates. It could result from placental insufficiency or congenital abnormalities in the fetus such as agenesis of the kidneys or atresia of the urethra [6]. Here we described a prenatal case with Fraser syndrome indicated severe oligohydramnios, high airway obstruction, bilateral renal agenesis and multiple associated craniofacial anomalies in a nonconsanguineous couple.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Prenatal Sonographic Features of Fraser Syndrome with Multiple Craniofacial Abnormalities: A Case Report

Submit Manuscript | http://medcraveonline.com of this syndrome is estimated below 0.04 per 10.000 live born infants and 1.1 in 10.000 stillbirths [2]. It is mainly characterized by variable expressions of cryptophthalmos, syndactyly, abnormal genitalia, laryngeal malformations and urogenital defects [2-4]. Antenatally diagnosed cases had more manifestations result in a pathological amount of am...

متن کامل

Prenatal Sonographic Features of Fraser Syndrome with Multiple Craniofacial Abnormalities: A Case Report

Submit Manuscript | http://medcraveonline.com of this syndrome is estimated below 0.04 per 10.000 live born infants and 1.1 in 10.000 stillbirths [2]. It is mainly characterized by variable expressions of cryptophthalmos, syndactyly, abnormal genitalia, laryngeal malformations and urogenital defects [2-4]. Antenatally diagnosed cases had more manifestations result in a pathological amount of am...

متن کامل

Robinow Syndrome: a Rare Case Report from a Tertiary Care Hospital in Eastern India

Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

متن کامل

Holoprosencephaly: 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 کامل

A Case Report: Nager Acrofacial Dysostosis

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2018