Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis

Table 1

Physical examination and radiographical features of babies 1 and 2.

Physical and radiological findings	Baby 1	Baby 2
Short stature	+	+
Macrocephaly	+	+
Cloverleaf head	−	−
Wide suture	+	+
Low-set ears	+	+
Depressed nasal bridge	+	+
Multiple skin folds	+	+
Narrow bell-shaped chest	+	+
Protuberant abdomen	+	+
Respiratory distress	+	+
Hypoplastic lung	+	+
Curved, telephone-handle femur	+	+
Curved telephone-handle humerus	+	−
Brachydactyly	+	+
Cyanosis	+	+