We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.
Abnormalities, Multiple ; Female ; Humans ; Infant, Newborn ; Lung/*abnormalities/ultrasonography ; *Magnetic Resonance Imaging ; Male ; Pregnancy ; *Prenatal Diagnosis ; *Ultrasonography, Prenatal

Thanatophoric dysplasia (TD) is a lethal inherited skeletal disorder characterized by extremely short limbs, narrow chest, skull deformity and underdeveloped lungs. TD is divided into two types, depending primarily upon whether the bone in the upper leg (the femur) is curved or straight. We experienced two case of TD type I that were confirmed by clinical and radiological features after birth. Unlike previously reported cases of TD in our country, the multiple anomalies of CNS, kidney and cardiovascular system were identified in one of these cases.
Cardiovascular System ; Congenital Abnormalities ; Extremities ; Kidney ; Leg ; Lung ; Parturition ; Skull ; Thanatophoric Dysplasia ; Thorax ; Ultrasonography, Prenatal

The most commonly associated anomalies in patients with extrahepatic biliary atresia are cardiovascular, digestive and splenic defects. Of the cardiovascular anomalies, there are very few reports of biliary atresia with cardiomyopathy. We report the first case of a child with extrahepatic biliary atresia and restrictive cardiomyopathy. The patient was a 13-month-old boy diagnosed with extrahepatic biliary atresia at the age of 2 months, when he underwent laparotomy for definite diagnosis.Hepatic portoenterostomy was performed after confirmative cholangiogram. Recently, he developed severe cough and dyspnea, and his respiratory symptoms worsened. Chest radiograph showed cardiomegaly. Two- dimensional echocardiography showed marked biatrial enlargement. On M- mode echocardiogram, a slight increase in left ventricular dimension was seen in early diastole with a relatively good left ventricular function. Mitral inflow Doppler tracing showed an increased E-velocity (1.1 m/sec) with decreased deceleration time (75 m/sec), and increased E/A ratio (0.33). He was diagnosed as having restrictive cardiomyopathy with characteristic echocardiographic features.
Bile Ducts, Extrahepatic/*abnormalities ; Biliary Atresia/*complications/physiopathology/radiography/ultrasonography ; Cardiomyopathy, Restrictive/*complications/physiopathology/radiography/ultrasonography ; Human ; Infant ; Lung/radiography ; Male ; Radiography, Thoracic

VACTERL association is occuring in conjuction with vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis and limb defects. Additional abnormalities may include microphthalmia, abnormal lung lobulation and spleen defects. We describe a infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. A woman at 25 weeks gestaion was transferred to our hospital due to abnormal antenatal sonographic finding(molded calvarium, huge mass in abdomen, hyperechoic intestine and femur bowing). She admitted to our hospital due to decreased fetal movement 3 weeks later. Fetal death in uterus was diagnosed by sonogram. Its phenotype displays imperforated anus, absence of genital organ, absence of utrethral opeining, disunion of maxilla and mandible, varus deformity of bilateral knee joints, widening of interphalangeal space in right foot. The diagnosis was confirmed by clinical features, radiological findings, and autopsy. We reported this case of VACTERL association with review of literatures.
Abdomen ; Anal Canal ; Anus, Imperforate ; Autopsy* ; Congenital Abnormalities ; Diagnosis ; Extremities ; Female ; Femur ; Fetal Death ; Fetal Movement ; Foot ; Genitalia ; Humans ; Infant ; Intestines ; Knee Joint ; Lung ; Mandible ; Maxilla ; Microphthalmos ; Parents ; Phenotype ; Skeleton ; Skull ; Spleen ; Tracheoesophageal Fistula ; Ultrasonography ; Uterus