Frontofacionasal dysplasia

Abstract

We report on the fourth case of frontofacionasal dysplasia and discuss the differential diagnosis of this autosomal recessive disorder.

De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy

“…In 1984, the term was changed to frontofacionasal dysplasia when Gollop et al [1984] reported an additional case, again, with consanguineous parents and normal chromosomal studies-the term dysplasia was felt to more accurately describe this type of malformation than dysostosis. A fourth case of the syndrome was reported by White et al in 1991. This child's karyotype was not reported.…”

“…The frontonasal dysplasias are thought to be the result of a developmental field defect; White et al [1991] suggest that frontofacionasal dysplasia may be "one specific disorder in the FND developmental field." The defect is likely a result of the failure of normal development of the nasal capsule at about 33 days of gestation, that allows the primitive forebrain to move forward into space normally filled by the developing olfactory system.…”

Frontonasal dysplasia (Median cleft face syndrome)

“…The important diff erential diagnosis of FND includes frontofacionasal dysplasia (FFND), which has ocular defects and midface hypoplasia in addition to the midline facial cleft . [11][12][13][14] Acro-frontofacionasal dysostosis is another disorder, which is distinguished from FND by the presence of campto-brachy-polysyndactyly and limb hypoplasia 6 . Craniofrontonasal dysplasia is characterized by the presence of coronal synostosis, [7] as opposed to a bifi d cranium in FND.…”

Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome?

“…Fronto‐facio‐nasal dysplasia was first described in sibs by Gollop in 1981. This syndrome is a rare autosomal recessive disorder and characterized by brachycephaly, cranium bifidum occultum, encephalocele, blepharophimosis, primary telecanthus, lower lid lagophthalmos, frontal lipoma, mid‐face hypoplasia, bifid nose and cleft lip and palate [Gollop, 1981; White et al, 1991; Guion‐Almeida, 1993; Guion‐Almeida et al, 2000; Özkinay et al, 2000]. The findings in our case were not consistent with fronto‐facio‐nasal dysplasia, since cranium bifidum occultum, and bifid nose were not observed.…”