A Diagnostic Conundrum: Ectopic Nasal Ossification, Submucosal Alveolar Cleft, Absent Posterior Atlantal Arch, and Corpus Callosum Lipoma

Abstract

A 19-year-old woman was referred for nasal breathing and aesthetic concerns regarding her nose. A computed tomography scan revealed a massive osseous shield anterior to the piriform aperture. Furthermore, there was a submucosal median alveolar cleft, and the posterior arch of C1 was missing. The magnetic resonance imaging brain scan revealed a curvilinear lipoma of corpus callosum. The ectopic nasal bone was removed by open rhinoplast,y and nasal function and aesthetics were restored. The described features defy conventional clinical diagnosis and severity classifications and present a diagnostic conundrum somewhere between a mild form of frontonasal dysplasia, oculoauriculofrontonasal syndrome, and Pai syndrome.

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

“…However, none of these findings is surprising if we consider OAFNS as the association of OAVS and FND: mandibular cleft and unilateral anophtalmia has indeed been previously described in OAVS (Aleksic et al, ; Vendramini‐Pittoli et al, ), thyroid agenesis and polymicrogyria in FND (Giffoni, Cendes, Valente, & Gil‐da‐Silva‐Lopes, ; Monroy‐Santoyo et al, ); olfactory bulb agenesis is a midline defect. Furthermore, if the occasional occurrence of nasal polyps had previously been noted in about 20% of the patients with OAFNS (Borumandi et al, ; Casey et al, ; Gawrych et al, ; Musarella & Young, ; Roman Corona‐Rivera et al, ), this series highlights this finding as a classical OAFNS feature, as it is present in 10 patients (56%) of this series. Of note, this result could be biased, as the patients from this series were identified from a cohort of individuals referred for various entities of FND, including Pai syndrome.…”

“…Except for two siblings born from a diabetic mother (Golabi et al, ), all have a sporadic occurrence. Besides features from FND and OAVS, an ectopic nasal bone, specific feature never previously described in any other disorder, have been described in several patients with OANS (Borumandi, Chadha, Dediol, & Uglesic, ; Evans et al, ; Musarella & Young, ). This feature has been argued for supporting that OAFNS is a distinct clinical entity, and could help its clinical recognition.…”

“…These observations support a postzygotic event––mosaicism or epigenetic anomaly––or a nongenetic cause, in these OAFNS‐phenotypically related disorders. In OAFNS, three additional discordant twins were reported (Borumandi et al, ; Casey et al, ; Guimiot et al, ), but the zygosity is not mentioned in the reports. Finally, postzygotic activating mutation in KRAS (Boppudi et al, ) and FGFR1 (Bennett et al, ) have recently been identified in the encephalocraniocutaneous lipomatosis (ECCL, MIM 613001), characterized by facial skin lesions, ocular and cerebral malformations including epibulbar dermoids and central nervous system lipomatosis.…”

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

“…The first element to consider for the diagnosis is the localization of the frontonasal facial polyps: if they are non‐midline, PS can be excluded. Non‐midline (non‐frontonasal) facial polyps have been described in OAFNS (Borumandi et al, 2015; Casey et al, 1996; Evans et al, 2013; Musarella & Young, 1986; Roman Corona‐Rivera et al, 2007) and in ECCL. In OAFNS, they are located either on the mandible or the cheek, whereas in ECCL they are classically located in the periocular region and can be associated with nevus psiloliparus and cutaneous aplasia (Moog, 2009).…”

“…In OAFNS, the nose is usually broad or bifid (Evans et al, 2013). Recent reports (Borumandi et al, 2015;Evans et al, 2013) described a specific bony nasal abnormality in OAFNS patients, ranging from dysplastic nasal bones to spoon-shaped nasal bones with high nasal bridge, that has not been reported in any other syndrome so far. This description fits with the ectopic nasal ossification described on patient 21's facial CT.…”