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2009-12-10 Answer to the case of the week #257 © Nguyen

Answer to the case of the week #257

November 26, 2009 - December 10, 2009

Ha To Nguyen, MD.

Director of Imaging Diagnosis Department, Maternal Tudu Hospital, 284 Cong Quynh St Dist 1, Hochimin City, Vietnam.




Achondrogenesis type I is a lethal type of skeletal dysplasia with incidence 0.23 per 10, 000 live births. It is an autosomal recessive disorder clinically manifested by severe limb shortening - marked micromelic dwarfism; fetal hydrops; small, barrel-shaped chest; short neck and trunk, distended abdomen; polyhydramnion. There are usually some additional findings present such as heart, genitourinary tract or CNS anomaly. Differential diagnosis with Achondrogenesis type II is based on lack of mineralization of vertebral bodies in the type II, but both of the anomalies have large spectrum of phenotypic variability.


Case report


This ia a case of the skeletal dysplasia called Achondrogenesis type I. The diagnosis of lethal skeletal dysplasia was done at  31 weeks of the otherwise uncomplicated pregnancy of 34-year-old G2P1. She had no previous ultrasound scan done prior our examination. She opted for the pregnancy termination due to the adverse prognosis for the fetus.


Images 1, 2: Images show an apparent edema of the head at 31 weeks. This is probably not edema but a normal amount of sot-tissue over a too small skeletal frame.




Images 3,4: Images show a 3D view of the fetal face with remarkable swelling.




Images 5,6: Images show 2D, 3D view of the upper extremities which are extremely shortened.




Images 7,8: Image 7 shows a micromelic shortening of the long bones, femur and humerus, their length at 31 weeks corresponds to 12 weeks+3 days of gestation; image 8 represents a 3D view of the micromelic lower extremity.




Images 9,10: Image 9 shows a BPD and AC measurement which correspond to the actual gestation age of the fetus; image 10 shows a sagittal view of the neck and trunk, note the remarkably small chest with hypoplastic lungs.




Image 11: Images shows a transverse view of the abdomen with omphalocele.




Images 12,13: Image 12 shows a male genitalia; image 13 represents hydrocele with undescended testicles.




Image 14: Images shows a fetus after pregnancy termination, remarable micromelic dwarfism and omphalocele.






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