Chang CH, Chang FM, Yu CH, Liang RI, Ko HC, Chen HY. 2000. Fetal ear assessment and prenatal detection of aneuploidy by the quantitative three-dimensional ultrasonography. Ultrasound Med Biol 26: 743–749. Chang LW, Chang FM, Chang CH, Yu CH, Cheng YC, Chen HY. 2002. Prenatal diagnosis of fetal multicystic dysplastic kidney with two-dimensional and three-dimensional ultrasound. Ultrasound Med Bi...

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regres...

OBJECTIVES Thanatophoric dysplasia (TD), the most common of the congenital lethal skeletal dysplasias occurs sporadically in 1/64,000-100,000 live births. To the best of our knowledge, the in utero attitudes and behaviours of such babies with serial ultrasound scans have not been previously described. We present the in utero third trimester sonographic behaviors of TD in a 22-year-old primigra...

As part of an assessment for preeclampsia, a prenatal sonogram performed on a pregnant woman at 33 weeks 4 days' gestation showed ectrodactyly in all 4 fetal extremities. The woman's husband had a history of hand abnormalities but was unaware that his condition was genetic. His examination was notable for ectrodactyly, small, peg-shaped teeth, microretrognathia, nail dysplasia, and a history of...

Epidermoid cysts are benign developmental anomalies that are rarely observed in the oral cavity of neonate. If large in size, especially in the developing fetus or newborn infant, they can cause swallowing difficulty and occasionally respiratory difficulty. We report a case of epidermoid cyst in the oral cavity detected prenatal sonography. The sonographic finding was large cystic mass, measuri...

BACKGROUND: Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. CASE PRESENTATION: A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine g...

Macrodactyly, defined as enlargement of one or several digits of the hands or feet, is a rare malformation. It may be due tumorous enlargement of a single tissue element, as in hemangioma, lymphangioma or enchondroma or it may be caused by overgrowth of all structures of the digit, including phalanges, subcutaneous tissue, nerves, vessels and skin as in ‘true macrodactyly’(Barsky, 1967). Furthe...