Frontonasal dysplasia is a rare disorder involving the face and often the central nervous system:
- central nervous system
These abnormalities can be present in any combination or severity although hypertelorism tends to be a constant feature 5.
The exact pathogenesis is unknown but it is possible that a primary neural crest migration defect or a fetal ischaemic episode inhibiting cell migration being an initial event. Some consider this being part of the holoprosencephaly spectrum at the less severe end.
Most cases are sporadic although rare familial cases have been described
The term frontonasal dysplasia was suggested by H O Sedano et al in 1970 to describe a group of patients with midline facial clefting 7.
- 1. Martinelli P, Russo R, Agangi A et-al. Prenatal ultrasound diagnosis of frontonasal dysplasia. Prenat. Diagn. 2002;22 (5): 375-9. doi:10.1002/pd.287 - Pubmed citation
- 2. Frattarelli JL, Boley TJ, Miller RA. Prenatal diagnosis of frontonasal dysplasia (median cleft syndrome). J Ultrasound Med. 1996;15 (1): 81-3. J Ultrasound Med (citation) - Pubmed citation
- 2. Johnstone E, Glanville T, Pilling J et-al. Prenatal diagnosis of frontonasal dysplasia using 3D ultrasound. Prenat. Diagn. 2008;28 (11): 1075-6. doi:10.1002/pd.2118 - Pubmed citation
- 4. Jones KL, Smith DW. Smith's recognizable patterns of human malformation. W B Saunders Co. (2006) ISBN:0721606156. Read it at Google Books - Find it at Amazon
- 5. Hodgkins P, Lees M, Lawson J et-al. Optic disc anomalies and frontonasal dysplasia. Br J Ophthalmol. 1998;82 (3): 290-3. Br J Ophthalmol (link) - Free text at pubmed - Pubmed citation
- 6. Lees MM, Hodgkins P, Reardon W et-al. Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases. Clin. Dysmorphol. 1998;7 (3): 157-62. - Pubmed citation
- 7. Sedano HO, Cohen MM, Jirasek J et-al. Frontonasal dysplasia. J. Pediatr. 1970;76 (6): 906-13. - Pubmed citation