Oculoauriculofrontonasal Dysplasia Syndrome with Additional Clinical Features

Abstract

Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.

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

“…All cytogenetic and molecular investigations reported in patients with OAFNS in the literature were negative, including karyotype, array comparative genomic hybridization (CGH) (Adolphs et al, ; Guimiot et al, ; Tunc et al, ), ALX3 (Adolphs et al, ) and GLI3 (Guimiot et al, ) sequencing. We performed trio‐based ES and GS in three patients and their healthy parents, looking in the first step for de novo variants, as the occurrence of OAFNS is usually sporadic.…”

“…The craniofacial tissues derive from the cranial neural crest cells, a population of pluripotent cells that arise from the dorsal aspect of the neural tube and migrate to populate the frontonasal process and the first, second, third, and fourth pharyngeal arches (Le Lievre & Le Douarin, ). About 40 individuals with OAFNS have been described in the literature (Adolphs et al, ; Casey, Braddock, Haskins, Carey, & Morales, ; Evans et al, ; Gabbett et al, ; Gawrych, Janiszewska‐Olszowska, & Chojnacka, ; Golabi, Gonzalez, & Edwards, ; Gupta et al, ; Ishmael, Begleiter, Regier, & Butler, ; Johnson, Benoit, Pierre‐Louis, Keating, & Chitayat, ; Musarella & Young, ; Roman Corona‐Rivera et al, ; Toriello, Higgins, & Mann, ; Tunc et al, ). Except for two siblings born from a diabetic mother (Golabi et al, ), all have a sporadic occurrence.…”

Rhinoplasty in a 3 Week Old: Surgical Challenges in the Setting of Severe Congenital Frontonasal Dysplasia

“…3,4 The condition is rare and mostly sporadic, but may be familial or syndromic, in association with oculo-auriculo-fronto-nasal syndrome and acromelic frontonasal dysplasia. 5 ALX genes are expressed in frontonasal mesenchyme and mutations in ALX1, ALX3, and ALX4 have been found in patients with CFND. 6 In addition, many CFND cases present with a concert of other clinical manifestations that add further complexity to the nomenclature, and several proposed classifications have attempted to group these various presentations.…”

“…6 In addition, many CFND cases present with a concert of other clinical manifestations that add further complexity to the nomenclature, and several proposed classifications have attempted to group these various presentations. 5,6 An early organization divided different subtypes of FND into Types A, B, C, or D, based on the presence or absence of a nasal tip, midline facial cleft, or clefting of the nasal alae. 3 Due to its rarity and range of complexity, surgical repair is not standardized, and few case reports have been presented.…”

Síndrome oculoauriculofrontonasal: caracterização fenotípica

“…Maiores Até o presente momento, há aproximadamente 60 casos descritos de OAFN com expressiva variabilidade clínica (CASEY et al, 1996;GUION-ALMEIDA, LOPES, 1997;GUION-ALMEIDA, 2000;ISHMAEL et al, 2002;JOHNSON et al, 2005;CORONA-RIVERA et al, 2007;GABBETT et al, 2008;ADOLPHS et al, 2012;EVANS et al, 2013;TUNC et al, 2017;LEHALLE et al, 2018;ITO et al, 2019). A maioria dos casos é esporádica e sem um modelo de herança definido.…”