My OB just informed me that he now considers me to be a high risk patient - I am on my fourth baby and I am 42 years old now. Statistically that means that I have a higher chance of having a baby with birth defects, which is why he wants me to do a whole host of prenatal tests. In particular, he was concerned about Acrofacial Dysostosis, Rodriguez Type based on an ultrasound we did. Is prenatal diagnosis of Acrofacial Dysostosis, Rodriguez Type possible, and what does it involve?
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My daughter is 8 months old and has been clinically diagnosed with Acrofacial Dysostosis Rodriguez Type, after a test for Miller syndrome came back negative. I have been told that my daughter is possible the only living person with this, as it has been labled a "lethal" syndrome. (most babies have been born stillborn or have passed shortly after birth due to respiratory stress). My baby girl was born with many of the craniofacial characteristics. Severe micrognathia (requiring a tracheotomy shortly after birth), underdeveloped ears, underdeveloped shoulder girdle, short humeri bilaterally, absent radius, ulna, and thumbs bilaterally, missing 1 set of ribs, short femurs, and absent fibula bilaterally. (just to mention the main ones). Did you have your baby? It would be nice to talk with someone that has been going through what my husband and I have. best wishes...jennifer
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