Antenatal diagnosis of achondroplasia.

We report a interesting case of antenatal diagnosis of achondrpoplasia in a young multigravida who presented with term pregnancy for routine ultrasound assessment which revealed a single, live intrauterine fetus with a discrepancy between femur length (FL) and biparietal diameter (BPD), narrowing of the interpeduncular distance. The diagnosis of achondroplasia was made with a sonological skeletal survey and findings were correlated with radiological skeletal survey after the baby was delivered.

Opsismodysplasia.

Opsismodysplasia is a rare osteochondrodysplasia with micromelia and platyspondyly. The authors report on a neonate with opsismodysplasia. During the antenatal period, polyhydramnios was noted. This is the first report of opsismodysplasia from India. Significant observation was antenatal polyhydramnios.

Prenatal diagnosis of achondrogenesis type II: A case report / 대한주산의학회잡지

We present a case of achondrogenesis type II demonstrating increased nuchal translucency on the first trimester ultrasound, which was confirmed in the second trimester ultrasound. Achondrogenesis type II is characterized by micromelia, varied ossification of spine, an enlarged calvarium with normal ossification, variable shortening of the ribs, and lack of rib fractures. In this case, ultrasonographic examination in the second trimester revealed a normally ossified cranium with relatively short long bones and a mildly protuberant abdomen due to small thorax and scanty ossified vertebral bodies. All these findings were compatible with the diagnosis of achondrogenesis type II. We further confirmed the diagnosis of achondrogenesis type II with postmortem radiographic examination.

A Case of Thanatophoric Dysplasia Type II Prenatally Diagnosed at 20 Gestational Weeks / 대한산부인과학회지

Thanatophoric dysplasia is a lethal skeletal dysplasia due to the dysfunction of endochondral ossification characterized by short limbs, narrow chest, micromelia, cranial dysplasia. Tavormina described in 1995 that the dysfunction of endochondral ossification is due to the missence mutation of the gene presenting the Fibrblast Growth Factor Receptor 3. Thanatophoric dysplasia is classified as two types. The type I is characterized by the curved short limbs and severe platyspondyly, and the type II by the kleeblattschadel (cloverleaf deformity) and straight short limbs. Both are destined to the death a few days after the delivery due to the pulmonary hypoplasia from the hypoplastic thorax. We experienced a case of thanatophoric dysplasia on antenatal ultrasound examination and then pregnancy was terminated by vaginal delivery. Now, with the review of literature, we report the case of thanatophoric dysplasia confirmed by clinical features and radiological finding.