Pai syndrome: first reported case in Qatar and review of literature of previously published cases

Abstract

A full-term male baby born with severe complete median cleft lip and palate and multiple facial cutaneous polyps on the right nostril, left and right ears and angle of the mouth. Eye fundus examination revealed hypopigmented fundi, pigmented rings around both discs and hypopigmented maculae. Neurological, Cardiovascular and abdominal examination was unremarkable, with normal echocardiography and abdominal ultrasound. CT and MRI of the brain revealed hypogenesis of the corpus callosum and midline paracallosal lipomas and calcifications. Chromosomal study showed normal male 46, XY karyotype. This is the first reported case in Qatar and the second case in a patient of Arabian descent. BACKGROUND

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

“…OAFNS‐related facial anomalies can be either nonmidline or midline: in this series, 6/10 (60%) of the patients with a nasal polyp had a paramedian nasal tip polyp (the information about the origin of the polyp is unavailable regarding the four individuals with a nare‐issuing polyp), one had in addition a median philtrum tag; 28% had unilateral cleft lip or palate, 17% had a median cleft lip; and the face was asymmetrical for 83% of the individuals. Furthermore, OAVS features are rarely described in PS: epibulbar dermoid has been reported in three patients (Guion‐Almeida, Mellado, Beltran, & Richieri‐Costa, ; Tormey, Bilic Cace, & Boyle, ), preauricular skin tags in one individual (Abdelmaaboud & Nimeri, ). Yet, the presence of OAVS findings in a patient with PS features should question the diagnosis of PS and rather suggest OAFNS as the accurate diagnosis.…”

Lipoma of Columella with septal extension in Pai syndrome: report of a rare case

“…Agenesis of corpus callosum with hemartomatous mass in nostril in Pai syndrome has been reported in a 1 month male child [ 11 ]. Hypopigmented fundi with pigmented rings in the optic disc and hypopigmented macule with severe midline cleft of lip and palate in a child of Arabian descent [ 12 ] has been reported from Qutar. Heriditary association of Pai syndrome and presentation of coloboma of right iris [ 13 ], with conjunctival lipoma of right eye [ 14 ], with bifid nose and frontal alopecia [ 15 ] and de novo reciprocal translocation have been reported [ 16 ].…”

Diagnostic criteria in Pai syndrome: results of a case series and a literature review

“…In the case series, six of seven patients had a midline cleft lip, and one patient presented with a paramedian cleft lip, a median notch of the upper lip, and a midline alveolar cleft (see Table 1). In the literature, three patients with Pai syndrome presented with uni-or bilateral paramedian lip clefts 2,21,22 . In four cases, a midline alveolar cleft without cleft lip was reported 3 .…”

“…Ear anomalies are rare and these included pre-auricular skin tags and/or ear dysplasia in five of 60 patients 21,30 . In the case series, one patient had three left preauricular skin tags and bilateral, symmetrical external ear dysplasia in addition to an ocular dermoid.…”