EP06.26: Prenatal diagnosis of achondroplasia: case report
نویسندگان
چکیده
منابع مشابه
Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
[This retracts the article DOI: 10.1155/2015/980749.].
متن کاملPrenatal diagnosis of lissencephaly: A case report.
INTRODUCTION Lissencephaly ("smooth brain") forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. CASE REPORT We presented a case of the prenatal diagnosis of lissencephaly. A 30-year-old pregnant woman was reffered to the hospital at th...
متن کاملPrenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case descr...
متن کامل[Oral manifestations of achondroplasia, a case report].
Achondroplasia a common form of dwarfism, caused by a single recurrent point mutation in more than 97% of patients, is an autosomal dominant disorder with an incidence of approximately 1/7500. The name of this disease was called Chondrodystrophia foetalis before Parrot in 1878 reported the name of this disease as Achondroplasia, distinguished from other similar diseases. The present case report...
متن کاملPrenatal diagnosis and postnatal findings of cloacal malformation: a case report
Introduction: Cloacal malformation is an extremely rare fetal pathological condition but an important anomaly that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography usually showed oligohydramnios and the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambig...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2018
ISSN: 0960-7692
DOI: 10.1002/uog.19871