[Pfeiffer syndrome a study about a new case]

ABSTRACT

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes and partial syndactyly on hands and feet. Pfeiffer syndrome affects about 1 in 100000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 of FGFR-2. We report the first case in our region. Douaa, had been admitted on the 8 hours of life for dyspnea and plymalformatif syndrome. She was born from a third pregnancy. The weight at birth was 3000 gr. She had a brachycephaly, flat occiput, full high forehead, under developed midface with receded cheekbones, a small nose with low nasal bridge. She shows an important ocular proptosis. The thumbs and big toes are short and broad; there is a deviation of thumbs and great toes away from the other digits and syndatyly of the 2-3 fingers and toes. The radiography of feet sowed a trapezoidal aspect of the first fingers of toes. The brain tomodensitometry showed a cranniosynostosis of the coronal suture, the sagittal suture was respected, the brain parenchyma was normal. On the therapeutic level the patient received artificial tears during the day and a lubricating ointment at night. A surgical management is previous at 3 months of age. Although rare, Pfeiffer syndrome Pfeiffer syndrome presents several systemic and ocular implications. A multidisciplinary approaches of care, including pediatrics, orthopedics, plastics, optometry, ophthalmology and neurosurgery, yields the most success