Craniofacial morphology in Muenke syndrome.
ABSTRACT The purpose of this study was to test whether the severity of the cranial phenotype in Muenke syndrome infants with unicoronal synostosis is greater than in infants with nonsyndromic unicoronal synostosis. A total of 23 infants were included in the study. All infants included in the study had a computed tomography (CT)-verified synostosis of the coronal suture. The patients were either placed into the "Muenke" group (n=11) or the "non-Muenke" control group (n=12) on the basis of a test for the P250R mutation in the FGFR3 gene. On the basis of CT scans, a three-dimensional surface model corresponding to bone was created for each individual. The sutures were inspected for synostosis, and the degree of synostosis was assessed. Increased digital markings were recorded for both groups. Craniofacial morphology was assessed quantitatively using bony landmarks and recording of the midsagittal surface of the calvaria, cranial base, and maxillary complex. Increased digital markings were more severe posteriorly in Muenke patients than in non-Muenke patients. The Muenke patients with unilateral coronal synostosis showed a somewhat more severe asymmetry in the anterior part of the skull than the non-Muenke patients. The study indicates differences with regard to severity of increased digital markings and craniofacial asymmetry between the infants with Muenke syndrome and the infants with nonsyndromic unilateral coronal synostosis.
Article: Analysis of causes that led to rib and skull fractures, sudden illness, intracranial bleeding, and death in the case of toddler Roman Pitts[show abstract] [hide abstract]
ABSTRACT: A male toddler suffered from cardiac arrest on May 26, 1988 after receiving amoxicillin. His stepfather, Daniel Childs, performed cardiopulmon-ary resuscitation (CPR) and called 911. The child was brought to the hospital, resuscitated, and given epinephrine 0.8 mg endotracheally and IV. He had a blood pH of 6.82, infection, and kidney and liver damage. The child was given sodium bicarbonate, antibiotics, and IV fluids. He died 4 days following admission. An autopsy was performed and the medical examiner (ME) found separation of the coronal suture in the child's skull, a subarachnoid hemorrhage, brain edema, five healing rib fractures, and one acute rib fracture. It was alleged that the child died as a result of blunt trauma. However, the para-medics, physicians, and nurses at two hospitals did not observe any injury caused by trauma on the child's body. His X-rays and a CT scan of the head did not show skull fracture. Daniel was accused of killing his stepson. He was convicted and sentenced to life in prison. The medical evidence presented in this report indi-cates that 1) the child's cardiac and respiratory arrest, pulmonary edema, and liver damage were caused by an allergic reaction to amoxicillin; 2) his subarachnoid bleeding was caused by epinephrine, liver injury, infection, and vitamin K deficiency; 3) the separation of the coronal suture was caused by the increased intracranial pressure which resulted from bleeding and edema; 4) the causes of the healing rib fractures were vitamin K and protein deficiency; 5) the acute rib fracture was caused by CPR; and 6) Daniel is innocent.Medical Veritas. 01/2008; 5:1573-1588.