Ophthalmic considerations in patients with Pfeiffer syndrome

Abstract

PurposeWe 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 unique surgical strategies used for obtaining adequate corneal coverage in these unique patients.ObservationsOphthalmic considerations in Type 2 Pfeiffer Syndrome include vision loss secondary to increased intracranial pressure, and extreme proptosis as a result of orbitostenosis and midfacial retrusion. Our patient has undergone multiple ophthalmic/oculoplastic, neurosurgical, and midfacial surgeries as a result of corneal deterioration due to extreme exorbitism.Conclusions and importanceIt is important for ophthalmologists to be aware of the ophthalmic complications associated with patients with craniosynostosis syndromes. Our case identifies the importance of close communication between ophthalmology and plastic reconstructive surgery to help formulate the most successful plan in treating corneal decompensation and proptosis in Pfeiffer Syndrome patients.

Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania

“…Pfeiffer syndrome has also been associated with other systemic anomalies like tracheobronchial tree anomalies, congenital heart defects, renal, aqueduct stenosis, hydrocephalus, cerebellar and brain stem herniation, low‐set ears, external auditory canal stenosis or atresia and, unusually, hydronephrosis, pelvic kidney and hypoplastic gallbladder, micro phallus, cryptorchidism, growth and mental retardation 4,5,7 We also found cranial, cardiac, and renal involvement in our patient associated with this syndrome.…”

“…Our patient had clinical findings consistent with Pfeiffer syndrome (PS) type 2, which consists of cloverleaf skull deformity due to extensive craniosynostosis, agenesis of corpus callosum, hand and foot anomalies like elbow synostosis, brachydactyly, and varus deformities of the toes, with additional bilateral choanal atresia, cardiac and renal anomalies. PS type 2 has been reported with similar presentation in many literatures from the Western world 7,9,10 . However, Badoe et al 8 reported two cases of Pfeiffer syndrome subtype 3 from west Africa over a 10‐year period indicating the rarity of this syndrome in African population.…”

“…PS type 2 has been reported with similar presentation in many literatures from the Western world. 7,9,10 However, Badoe et al 8 reported two cases of Pfeiffer syndrome subtype 3 from west Africa over a 10year period indicating the rarity of this syndrome in African population. Due to its various clinical presentation, this can easily be missed and perhaps it is under reported.…”

“…[4][5][6] Eye features in severe forms include shallow orbits, severe proptosis, cyclotorsion of the orbits, strabismus, and optic nerve compression from increased intracranial pressure. 7 There are few cases reported in African patients with other subtypes of Pfeiffer syndrome. 8 Since these babies have a very short life span, early death occurs within a few days after birth due to underlying visceral malformations especially airway malformations.…”

“…Pfeiffer syndrome has been found to be associated with anomalies of the upper airway which can lead to midface hypoplasia, secondary nasal obstruction, choanal atresia, and tracheal anomalies 4‐6 . Eye features in severe forms include shallow orbits, severe proptosis, cyclotorsion of the orbits, strabismus, and optic nerve compression from increased intracranial pressure 7 …”