Case report de novo heterozygous mutation in fgfr2 causing type ii pfeiffer syndrome

HIGHLIGHTS

• who: Pfeiffer Syndrome and colleagues from the Department of Pediatrics, Umm Al Qura University, Makkah, Saudi Arabia have published the research work: Case Report De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome, in the Journal: Case Reports in Genetics of 28/06/2022
• what: The authors report on an antenatal suspected case of Pfeiffer type II syndrome.

SUMMARY

Pfeiffer syndrome (PS; acrocephalosyndactyly Type V) is a rare genetic disorder characterized by premature closure of skull sutures (craniosynostosis), midfacial hypoplasia, ocular hypertelorism, brachydactyly, partial syndactyly of the fingers and . . .

 



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