The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature

Dubey, Siba P.; Garap, Joseph P.

doi:10.1016/s0165-5876(00)00341-4

Cited by 13 publications

(6 citation statements)

References 22 publications

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“… FND and eye anomalies: [Sedano et al, 1970; Temple et al, 1990 (4 cases); Guion‐Almeida et al, 1996 (8 cases); Lopes et al, 1997; Lees et al, 1998 (6 cases; one case is the same as Leitch and Winter, 1996); Dubey and Garap, 2000; Richieri‐Costa and Guion‐Almeida, 2004 (10 cases), Patient 1]. …”

Section: Resultsmentioning

confidence: 99%

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

Vargevik

Slavotinek

2007

American J of Med Genetics Pt A

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Frontonasal dysplasia [FND; OMIM 136760] results from abnormal morphogenesis of the frontonasal process with disruption of the formation of the facial midline. Craniofacial anomalies in FND include anterior cranium bifidum, ocular hypertelorism, orofacial clefting and notching or clefting of the alae nasi. The majority of FND cases are sporadic and discordance has been demonstrated in monozygotic twin pairs, arguing against a strong inherited component in pathogenesis. However, pedigrees with Mendelian inheritance and non-recurrent chromosome aberrations in FND patients demonstrate that gene mutations or cytogenetic imbalance can also be important in the etiology of this phenotype. We classified 101 reported cases of FND from the medical literature and three new cases into seven separate FND phenotypic subtypes in addition to isolated FND. Our aim was to evaluate FND patients for distinct phenotypes within the FND spectrum and to determine the evidence for a genetic etiology in each of the different subtypes. Our analysis showed significant differences in the severity of the accompanying malformations and the rates of learning disabilities in the FND subtypes, although the small patient numbers and method of patient ascertainment may have influenced the data. The results suggest that cases with FND should be evaluated for additional anomalies, as these may help to determine prognosis.

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Section: Resultsmentioning

confidence: 99%

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

Vargevik

Slavotinek

2007

American J of Med Genetics Pt A

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“…Au plan génétique, la DFN (isolée) survient de façon sporadique dans la majorité des cas [1,10], mais cette séquence peut également être syndromique, associée à une atteinte cérébrale avec déficit intellectuel possible [2,11,12], et transmissible (mode récessif et dominant) [7,10,13].…”

Section: Discussionunclassified

Un nouveau cas de diagnostic anténatal de dysplasie frontonasale

Guigue

Martin

Mangin

et al. 2011

Journal de Gynécologie Obstétrique et Biologie de la Reproducti

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“…Three years later, Sedano and coworkers 2 coined the term frontonasal dysplasia, after realizing that the disorder did not fulfill the definition criteria of a syndrome, but was rather a primary malformation resulting from abnormal tissue development 18 . Later, the same group considered frontonasal dysplasia a nonspecific developmental field defect, characterized by midfacial malformation and a host of low-frequency anomalies ( Table 1) [5][6][7][20][21][22][23] . Frontonasal malformation was proposed as a more appropriate term to describe the condition 24 .…”

Section: Discussionmentioning

confidence: 99%

First-trimester three-dimensional ultrasonographic findings in a fetus with frontonasal malformation

Sleurs¹,

Gonçalves²,

Johnson³

et al. 2004

Journal of Maternal-Fetal and Neonatal Medicine

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A case of a frontonasal malformation observed during the first trimester with three-dimensional ultrasonography and fetoscopy is reported. Absence of the nasal bone and a poorly characterized nose were visualized at 11 5/7 weeks by two-dimensional ultrasonography. Rendered three-dimensional ultrasound images revealed absence of the nasal bridge, widely spaced frontal bones and hypertelorism. Fetoscopy, performed at 12 3/7 weeks, confirmed the hypertelorism and showed a broad translucent nose with a flat nasal bridge. The final diagnosis of frontonasal malformation was made at autopsy after pregnancy termination. A review of prenatally diagnosed cases as well as the various syndromes having frontonasal malformation as a common denominator is presented.

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The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature

Cited by 13 publications

References 22 publications

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

Un nouveau cas de diagnostic anténatal de dysplasie frontonasale

First-trimester three-dimensional ultrasonographic findings in a fetus with frontonasal malformation

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