Version May 2024
| Skeletal dysplasia/craniosynostosis |
| Good radiographs. |
| Freeze long bone (at -20° or -80° Celsius). |
| Obtain tissue (skeletal muscle, skin) for DNA and other potential studies. |
| Karyotype and/or microarray. |
| Consider consultation with the UCLA International Skeletal Dysplasia Registry https://www.uclahealth.org/ortho/isdr. |
| Renal anomalies |
| Karyotype and/or microarray. |
| Urinalysis for protein and crystals. |
| Freeze skin or renal tissue (at -20° or -80° Celsius) for possible future genetic testing. |
| Inborn error of metabolism |
| Freeze bile (at -20° or -80° Celsius). |
| Save fresh bone and skeletal muscle at 4° Celsius for biochemical analysis. Consult with laboratory specialists as to how to obtain and preserve tissue. |
| Hydrops fetalis |
| Fetal blood smear (if not autolyzed) for morphologic evaluation of cells (eg, congenital dyserythropoietic anemia). |
| Fetal hematocrit, if possible. |
| Kleihauer-Betke on maternal blood. |
| Freeze liver (at -20° or -80° Celsius) for possible metabolic studies. |
| Karyotype and/or microarray. |
| Viral cultures if suggested by clinical findings. Request maternal screen. |
| Blood typing. |
| Consider electron microscopy of liver for metabolic storage diseases. |
| Consider postmortem blood spot for standard neonatal screening. |
| Arthrogryposes (any type) |
| Karyotype and/or microarray. |
| Neuropathology consultation for muscle biopsy, spinal cord. |
| Freeze skin or skeletal muscle (at -20° or -80° Celsius) for possible future genetic testing. |
| Dysmorphic features |
| Karyotype and/or microarray. |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
