Spondylometaphyseal dysplasia- Sedaghatian type


Spondylometaphyseal dysplasia, Sedaghatian type: A very rare syndrome characterized by abnormal bone development with short arms and flattened vertebrae. Death usually occurs within days of birth.


* Flattened vertebrae * Short arms * Low blood calcium level * High blood phosphate level * High blood alkaline phosphatase level * Long fibula * Turricephaly * Poor muscle tone * Seizures * Abnormal brain development


* Flattened vertebrae * Poor muscle tone * Seizures * Short arms