PP70. PFEIFFER SYNDROM: SPECIFICITY OF CLINICAL FEATURES – POSSIBILITY OF PRENATAL DIAGNOSIS
S.GRKOVIC University Children’s Hospital of Belgrade, Serbia e-mail: udkbg@rcub.bg.ac.yu
*Corresponding Author:
page: 79

Abstract

Pfeiffer syndrome is a rare autosomal dominant disorder. Based on molecular genetic research, it has been suggested that the disorder involves a mutation on the gene FGFR1 and FGFR2, which are located on the human chromosomes 8 and 10. Based on the severity and clinical characteristics, the Pfeiffer syndrome is classified into 3 clinical subtypes: Pfeiffer syndrome type 1 with mild clinical manifestations without neurological problems, and Pfeiffer syndrome type 2 and 3 with severe clinical manifestations and possible neurological problems. The main clinical characteristics of this syndrome include craniosynostosis (coronal and lambdoid), underdevelopment of the midface with exophthalmus and proptosis, broad thumbs and big toes. Case report: a newborn female baby was admitted to our hospital because of jaundice and congenital malformations. The baby was born from the first uncomplicated pregnancy. Family background was normal. Clinical findings on admission: typical craniofacial anomalies, which include craniosynostosis, underdevelopment of the midface, flat nasal bridge, orbital hypertelorism, broad short thumbs and bid toes, partial syndactyly of the feet. Radio examinations were done. Genetic counseling: possible prenatal diagnosis with three-dimensional ultrasound.




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