Familial clefting syndrome with ectropion and dental anomaly — without limb anomalies

Allanson, Judith; McGillivray, Barbara

doi:10.1111/j.1399-0004.1985.tb02288.x

Cited by 28 publications

(6 citation statements)

References 6 publications

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“…(1) Piper [], (2) Allanson and McGillivary [], (3) Martinez et al [], (4) Falace and Hall [], (5) Korula et al [], (6) Gorlin et al [], (7) Guion‐Almeida et al [], (8) Valdéz et al [], (9) Yen et al [], (10) Lopes et al [], (11) Martinhago and Ramos [], (12) Salinas and Bray [], (13) Lida et al [], (14) Weaver et al [], (15) Adeboye et al [2009], (16) Present case.…”

Section: Discussionmentioning

confidence: 99%

Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

Ababneh

Alswaid

Elhag

et al. 2014

American J of Med Genetics Pt A

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The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. In addition to the common components of BCD syndrome that involve eyelids, lip, and teeth abnormalities, this patient is the third reported BCD case with imperforate anus, the second with thyroid agenesis, and the first with lumbosacral meningomyelocele.

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Section: Discussionmentioning

confidence: 99%

Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

Ababneh

Alswaid

Elhag

et al. 2014

American J of Med Genetics Pt A

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“…Les dents coniques sont moins fréquentes que les microdonties ; le diagnostic doit être fait sur la base d'un OPT car une incisive latérale conique peut être confondue avec une canine. Face à une dent conique, il faut rechercher s'il ne s'agit pas d'une anomalie familiale se manifestant dans le cadre d'une FB [18]. Il s'agit surtout de dysplasie de l'émail.…”

Section: Anomalies De Nombre (Tab I Figs 8 Et 9)unclassified

Étude des anomalies dentaires associées aux fentes labiopalatines : à propos d’une série de 85 cas

Rakotoarison

Rakotoarivony

Ralaiarimanana

et al. 2011

Med Buccale Chir Buccale

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Mots clés : fentes labiopalatines / anomalies dentairesRésumé -Les fentes labiopalatines (FLP) sont des dysmorphoses buccales de cause inconnue. Elles sont associées, même dans les formes mineures, à des anomalies dentaires plus ou moins marquées. Objectif : Cette étude a pour objectif d'évaluer l'importance et la nature des anomalies dentaires associées aux FLP. .1% (p < 0.01) abnormalities affecting shapes, 30.6% structural abnormalities (dysplasia), 17.6% (p < 0.01) for late eruptions and 10.6% (p < 0.05) abnormalities in numbers. There are no significant differences on the distribution of enamel dysplasia. Dental versions are observed in significant number in unilateral CLP (p < 0.01). Conclusion: Those results are similar to literature data. Further studies on a wider population are necessary, in Madagascar, to obtain more sigificative datas.Correspondance : richard.rakotoarison@yahoo.fr

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“…Blepharocheilodontic (BCD) syndrome (MIM 119580) is a rare autosomal‐dominant condition characterized by eye, lip, and dental developmental abnormalities [Allanson and McGillivray, ; Korula et al, ; Gorlin et al, ]. Ophthalmic features include a double row of eyelashes of the upper eyelids (distichiasis); ectropion of the lower eyelids where the eyelids turn outwards to reveal the mucosal lining; wide palpebral fissures (euryblepharon) and as a consequence the eyes cannot be closed completely (lagophthalmia) and which may contribute to conjunctivitis [Guion‐Almeida et al, ].…”

Section: Introductionmentioning

confidence: 99%

“…Ophthalmic features include a double row of eyelashes of the upper eyelids (distichiasis); ectropion of the lower eyelids where the eyelids turn outwards to reveal the mucosal lining; wide palpebral fissures (euryblepharon) and as a consequence the eyes cannot be closed completely (lagophthalmia) and which may contribute to conjunctivitis [Guion‐Almeida et al, ]. Ocular hypertelorism has also been noted [Allanson and McGillivray, ; Yen et al, ].…”

Section: Introductionmentioning

confidence: 99%

Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features

Awadh

Kiukkonen

Nieminen

et al. 2017

American J of Med Genetics Pt A

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Blepharocheilodontic (BCD) syndrome is a rare condition characterized by bilateral cleft lip and palate (BCLP), eyelid abnormalities, and oligodontia. Despite orofacial clefting and oligodontia being central features of the condition, detailed reports of dental and craniofacial characteristics are scarce. The aim of this study was to analyze the dental and craniofacial features in a group of patients with BCD syndrome (three of which were related). Cephalometric radiographic analyses were performed on BCD syndrome patients (all radiographs taken at age 8 years) and compared to 40 randomly selected age-matched controls (20 non-syndromic BCLP, 20 non-cleft). Also, we assessed clinical records, photographs, dental study casts, and dental radiographs to determine the extent and pattern of tooth agenesis, dental morphology and malocclusion. BCD syndrome patients showed a very severe skeletal III malocclusion (maxillary-mandibular sagittal discrepancy) and reduced anterior lower face measurement compared to non-syndromic BCLP and non-cleft controls (P = 0.001, P = 0.027). All patients exhibited oligodontia (mean number of missing permanent teeth 13.7, range 7-17). All patients exhibited missing upper central and lateral incisor, upper canine and premolar teeth. Variations in dental morphology included taurodontism, conical-shaped teeth, and notching of the incisal edges. All patients had a short and narrow maxilla which translated into anterior and posterior cross bites. We conclude that, in our BCD syndrome group, the craniofacial skeletal defects are more severe than patients with BCLP. The pattern of tooth agenesis is unusual as it included teeth that are normally highly resistant to agenesis, namely upper central incisor and canine teeth. © 2017 Wiley Periodicals, Inc.

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Familial clefting syndrome with ectropion and dental anomaly — without limb anomalies

Abstract: Three generations of a family are described in which cleft lip and/or cleft palate, ectropion of the lower eyelids and conical teeth, subject to premature carious decay, occur in various combinations in different family members, in a manner consistent with autosomal dominant inheritance.

Cited by 28 publications

References 6 publications

Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

Étude des anomalies dentaires associées aux fentes labiopalatines : à propos d’une série de 85 cas

Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features

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