Frontonasal dysplasia: analysis of 21 cases and literature review

Guion‐Almeida, Maria Leine; Richieri-Costa, Antônio; Saavedra, Dolores; Cohen, Michael

doi:10.1016/s0901-5027(96)80048-8

Cited by 85 publications

(91 citation statements)

References 45 publications

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“…1a). At that stage, the differential diagnosis includes mainly Crouzon syndrome, craniofrontonasal syndrome, frontonasal dysplasia, frontorhiny, and Teebi hypertelorism syndrome [Teebi, 1987;Guion-Almeida et al, 1996;Wieacker and Wieland, 2005;Twigg et al, 2009]. In ensuing years the midface hypoplasia and facial asymmetry become more evident and cranial vault morphology will direct observers to craniosynostosis syndromes such as Crouzon syndrome, craniofrontonasal syndrome, and Seathre-Chotzen syndrome (Fig.…”

Section: Discussionmentioning

confidence: 99%

Elsahy–Waters syndrome: Evidence for autosomal recessive inheritance

Castori

Cascone

Valiante

et al. 2010

American J of Med Genetics Pt A

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Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism/telechantus, broad nose, concave nasal ridge, underdeveloped midface, prognathism, and radicular dentin dysplasia. Here we report on a 44-year-old woman and her 45-year-old brother, born to consanguineous parents, who show a striking resemblance to the earlier described patients. The hitherto reported patients were male and in one pedigree parents were consanguineous. The present report of an affected woman and her brother, born to consanguineous parents, supports autosomal recessive inheritance of this condition. We provide a short review of all previously reported patients with Elsahy-Waters syndrome and related entities.

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Section: Discussionmentioning

confidence: 99%

Elsahy–Waters syndrome: Evidence for autosomal recessive inheritance

Castori

Cascone

Valiante

et al. 2010

American J of Med Genetics Pt A

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“…Frank encephalocele in the midline can produce the same type of morphokinetic arrest found in frontonasal ''dysplasia.'' Less often, frontal teratoma, frontal lipoma, hamartoma, intracranial cyst, or intrinsic cartilaginous defect affecting the nasal capsule can produce hypertelorism [Kitlowski, 1959;Cohen et al, 1971bCohen et al, , 1995Cohen and Lemire, 1982;Hennekam et al, 1986;Guion-Almeida et al, 1996] (Fig. 13).…”

Section: Hypertelorism Normal Prenatal and Postnatal Changes In The Imentioning

confidence: 99%

“…Other abnormalities occur in some cases of hypertelorism, including nonprotruding lipomas of the corpus callosum, calcification of the falx cerebri, duplication of the crista galli, wrinkling of the nose, and tissue tags of the nose [Cohen et al, 1971b[Cohen et al, , 1995Cohen, 1993b;Guion-Almeida et al, 1996]. Most are associated with frontonasal ''dysplasia,'' but their significance is unknown at present.…”

Section: Hypertelorism Normal Prenatal and Postnatal Changes In The Imentioning

confidence: 99%

Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives

Cohen

2002

Am. J. Med. Genet.

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117

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“…as frontonasal dysplasia, and morning glory syndrome do not seem likely (Table I). Although frontonasal dysplasia [Guion-Almeida et al, 1996;Richieri-Costa and Guion-Almeida, 2004] and morning glory syndrome [Itakura et al, 1992;Chen et al, 2004] are both associated with basal encephaloceles, ACC, and clefting, our patients lack the characteristic facial appearance of frontonasal dysplasia and the specific morning glory disk anomaly, required for each of these diagnoses, respectively. Along with the classic features of Sakoda complex, Patient 1 also has renal abnormalities, an atrial septal defect, and hemivertebrae.…”

Section: Patientmentioning

confidence: 71%

Two cases further delineating the Sakoda complex

Dempsey

Torres-Martinez

Walsh

2007

American J of Med Genetics Pt A

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Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex.

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Frontonasal dysplasia: analysis of 21 cases and literature review

Cited by 85 publications

References 45 publications

Elsahy–Waters syndrome: Evidence for autosomal recessive inheritance

Elsahy–Waters syndrome: Evidence for autosomal recessive inheritance

Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives

Two cases further delineating the Sakoda complex

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