Diagnosis of pfeiffer syndrome with umbilical hernia
Pakistan Journal of Medicine and Dentistry. 2015; 4 (1): 54-56
in English
| IMEMR
| ID: emr-173598
ABSTRACT
Pfeiffer syndrome [PS] is a form of acrocephalosyndactyly, a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. Type I Pfeiffer syndrome is compatible with life. It is characterized by normal intelligence and a classic phenotype of craniosynostosis, broad thumbs, and syndactyly. Types II and III are sporadic in occurrence, with more severe involvement of the central nervous system [CNS] than in type I. Type II is associated with the classic cloverleaf-shaped skull. Neurologic compromise is common in both types II and III
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Index:
IMEMR (Eastern Mediterranean)
Language:
English
Journal:
Pak. J. Med. Dent.
Year:
2015
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