Reporte de caso
Published on 3 de noviembre de 2025 | http://doi.org/10.5867/medwave.2025.10.3087
Thanatophoric dysplasia: A case report
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Ultrasound findings according to gestational age.
| 6 weeks | Ultrasound (undocumented report) | Local SBS | Folic acid and prenatal vitamins, monthly ultrasound |
| 10 weeks | Gestational age: 10.1 weeks CRL: 33.8 Diameter: 176 mm | Local SBS | Folic acid and prenatal vitamins, monthly ultrasound |
| 16 weeks | Limbs not visible | Local SBS | Ultrasound checkup in one month |
| 24 weeks | Limbs not visible | Local SBS | Transfer to provincial gynecology |
| 32 weeks | Bone hypoplasia, macrocephaly, facial asymmetry, increased soft tissue in cheeks, and short limbs | Private provincial specialty hospital | No prenatal genetic testing (lack of financial resources) |
| 38.1 weeks | Cranial deformity, increased diameter 10.9 cm, facial bones not identified, femur length 3.5 cm, abdominal circumference 31.4 cm; grade III fundal placenta; fetal heart rate 145 beats per minute | IESS Hospital Rural Insurance | Counseling for parents regarding poor fetal prognosis. |
SBS, sub-health center. GA, gestational age. CRL, crown-rump length. IESS, Ecuadorian Social Security Institute.
Source: AS400 registry. Prepared by the authors.