Achondroplasia

Marcos Antonio Velasco Sanchez, MD; Candelario Conda Moreno, MD; Javier Cabrera Garcia, MD; Areli Valtierra Mendoza, MD

Clinica Medica De Jesus, Pinotepa Nacional, Oaxaca. Escuela De Medicina - Universidad Autonoma De Guerrero. Hospital General S. S. A. Acapulco, Guerrero, Mexico. Instituto Mexicano de Diagnostico Por Imagen, Acapulco, Mexico.

Case report

The following images show a case of achondroplasia diagnosed at 36 weeks of pregnancy of a 21-year-old G2P1. Her husband has some family history of achondroplasia.

Images 1, 2: 36 weeks of pregnancy; the image 1 shows a normal head circumference corresponding to 36+3 weeks of pregnancy. The image 2 shows a short fetal femur corresponding only to 26+3 weeks of pregnancy.

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Images 3, 4: 36 weeks of pregnancy; the images show short long bones of the fetus corresponding to 27 weeks (humerus; image 3) and 30 weeks of pregnancy (tibia; image 4).

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Images 5, 6: The image 5 summarizes the fetal biometry - shortening of the long bones, especially of the humerus, is dominating. The image 6 shows a 3D image of the fetal face with the low nasal bridge and midface hypoplasia.

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Images 7, 8: The images compare the prenatal 3D image and postnatal appearance of the baby.

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Images 9, 10: Postnatal appearance of the baby.

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