Differential Diagnosis for Stillborn Infant with Sacral and Lumbar Vertebrae Absence
- Single most likely diagnosis
- Maternal diabetes mellitus: This condition is strongly associated with caudal regression syndrome, characterized by the absence of the sacrum and lumbar vertebrae, as well as other congenital anomalies such as club feet and a small pelvis.
- Other Likely diagnoses
- Intrauterine phenytoin exposure: Exposure to phenytoin during pregnancy has been linked to fetal hydantoin syndrome, which can include congenital anomalies such as skeletal abnormalities and growth restriction.
- Chromosome 13 trisomy: Although less common, trisomy 13 can cause severe congenital anomalies, including skeletal abnormalities, although the specific pattern of sacral and lumbar vertebrae absence is not typically associated with this condition.
- Do Not Miss
- Intrauterine infection: Certain infections, such as cytomegalovirus, can cause congenital anomalies and stillbirth, and it is essential to consider and rule out infectious causes to provide appropriate management and counseling.
- Rare diagnoses
- Chromosome 18 trisomy: Trisomy 18 is associated with severe congenital anomalies, but the specific pattern of sacral and lumbar vertebrae absence is not typically associated with this condition.
- Intrauterine alcohol exposure: Fetal alcohol spectrum disorder can cause congenital anomalies, including skeletal abnormalities, but the specific pattern of sacral and lumbar vertebrae absence is not typically associated with this condition.
- Genetic syndromes: Other rare genetic syndromes, such as spondylocostal dysostosis, can cause congenital anomalies of the spine and skeleton, but these are less likely given the specific pattern of anomalies described.