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Pfeiffer syndrome – a case report

Fedir Yurochko1, Dzvenyslava Kopanska1, Oleksandra Bonetska2, Mykola Bihun3

Affiliation and address for correspondence
Pediatr Med Rodz 2021, 17 (4), p. 358–361
DOI: 10.15557/PiMR.2021.0058
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Abstract

Pfeiffer syndrome is a severe autosomal dominant condition that affects many systems of the human body. It is caused by mutations in the fibroblast growth factor receptors of the fibroblast growth factor genes. The phenotype of patients with Pfeiffer syndrome includes multiple limb and cranial abnormalities, and mental retardation. The infant reported here also had cloverleaf-shaped skull, broad thumbs and big toes, bilateral syndactyly, and hypertelorism. The patient was hospitalised in the Lviv Regional Clinical Hospital with multiple congenital malformations and severe neurological status. Acrocephaly, cloverleaf-shaped skull and severe concomitant neurological complications suggested Pfeiffer syndrome, which was later confirmed.

Keywords
Pfeiffer syndrome, cloverleaf-shaped skull, craniosynostosis, hypertelorism

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