A Case of Pfeiffer Syndrome
نویسندگان
چکیده
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
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A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (F...
متن کاملOphthalmic considerations in patients with Pfeiffer syndrome
Purpose We report here a newborn male infant with striking features consistent with severe Pfeiffer syndrome type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity contractures, broad big toes and thumbs with varus deviation and genetic mutation in the FGFR2 gene. The authors review the ophthalmic complications in Pfeiffer syndrome and discuss the u...
متن کاملThe Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself
Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases can be attributed to mutations outside this region of the protein. A mild form of Pfeiffer syndrome can rarely ...
متن کاملCorrigendum to “Ophthalmic considerations in patients with pfeiffer syndrome.” [Am. J. Ophthalmol. Case Reports (2) 2016 1–3]
Corrigendum to “Ophthalmic considerations in patients with pfeiffer syndrome.” [Am. J. Ophthalmol. Case Reports (2) 2016 1e3] Jeremy D. Clark a, b, , Christopher J. Compton a, , Youssef Tahiri , William R. Nunery , Hui Bae Harold Lee a a Oculofacial Plastic and Orbital Surgery, 201 Pennsylvania Parkway, Suite 225, Indianapolis, IN, USA b Department of Ophthalmology and Visual Sciences, Universi...
متن کاملTracheal anomalies in Pfeiffer syndrome.
OBJECTIVE To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome. DESIGN Retrospective case series. SETTING Academic tertiary care pediatric hospital. PARTICIPANTS Eleven patients with Pfeiffer syndrome, 6 of whom were severely affected, were identified. All were included in the study. MAIN OUTCOME MEASURES Presence of tracheal anomalies, need for tr...
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