The pathogenesis of the first and second branchial arch syndrome

Poswillo, David

doi:10.1016/0030-4220(73)90070-4

Cited by 500 publications

(219 citation statements)

References 16 publications

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“…The external ear is developed from the first and second branchial arches [27], while the auricle is formed by a series of auricular hillocks that surround the first pharyngeal groove during the sixth postconceptional week [28]. Thus this CA is a typical developmental field defect [29] or complex CA [5] including -beyond microtia/anotia -sometimes atresia/stenosis of external auditory meatus/canal and/or preauricular tag/pit/sinus.…”

Section: Discussionmentioning

confidence: 99%

Prevalence at birth of congenital abnormalities of external ears in Hungary

Paput¹,

Bánhidy

Czeizel

2011

Open Medicine

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AbstractThe objective of the study was to estimate the prevalence at birth and epidemiologic characteristics of patients/cases with both isolated and multiple “syndromic” external ear congenital abnormalities (CAs) in Hungary. The Hungarian Congenital Abnormality Registry, 1980–1996, included 649 cases with isolated external ear CAs, while the number of cases with unclassified multiple CA, including ear CAs, was 331. Thus the prevalence at birth of cases with isolated external ear CAs and unclassified multiple CAs was 0.30 and 0.15, respectively, for a total 0.46 per 1000 births. After reevaluation of reported 354 cases with isolated external ears CAs in the Hungarian Case-Control Surveillance of Congenital Abnormalities, 74 (20.9%) and 236 (66.7%) were affected with mild and severe microtia, while 24 (6.8%) had anotia. The fourth group included 20 cases with the combination of anotia/microtia and external/middle ear CAs. Isolated ear CAs showed a slight male excess (54.0%) and strong predominance of unilateral manifestation (93.4%). Multiple ear CAs showed a stronger male excess (65.4%) and less frequent unilateral affection (62.2%). In conclusion, ear CAs had a low diagnostic validity; thus it was necessary to reassess the data and to reclassify several cases.

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Section: Discussionmentioning

confidence: 99%

Prevalence at birth of congenital abnormalities of external ears in Hungary

Paput¹,

Bánhidy

Czeizel

2011

Open Medicine

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“…This suggests that the colobomas associated with facial clefts predominantly arise owing to failure of lid-fold migration and closure resulting in corneal exposure in utero and to improper differentiation of ectoderm into bulbar and tarsal conjunctiva. The aetiology of facial clefts remains unresolved, with theories including; abnormal neural crest cell migration, 16 anomalous vascular development, 17 defective migration and fusion of mesoderm, 18 and the presence of amniotic bands. 19 Conversely, the first arch syndromes (and in particular Goldenhar syndrome), were associated with smaller colobomas and high incidence of choristoma.…”

Section: Eyelid Coloboma and Associated Developmental Defectsmentioning

confidence: 99%

The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas

Smith

Verity

Collin

2015

Eye

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Purpose To describe a cohort of patients with congenital eyelid coloboma, to identify associated ocular and craniofacial abnormalities, and to establish any correlation between the size and location of eyelid colobomas and the presence of such abnormalities. Methods An observational case series of 55 patients with eyelid coloboma treated by a single surgeon (JROC) between 1985 and 2005. Results Eyelid colobomas predominantly affected the upper lids (93%), and were typically unilateral (76%). About a third (29%) were an isolated finding, with the remainder associated with other ocular (62%) and/or craniofacial (53%) abnormalities. Of those with ocular abnormalities; 19 (56%) had conjunctival traction bands, 16 (47%) choristomas, and 8 (24%) an abnormal globe. Of those with craniofacial abnormalities; 13 (45%) had Goldenhar Syndrome, 10 (35%) clefting disorders, and 4 (14%) Fraser Syndrome. Clefting disorders were typically associated with more severe colobomas and a higher incidence of conjunctival traction bands, first arch syndromes with smaller colobomas and more choristomas. Overall large colobomas were significantly associated with the presence of other craniofacial defects compared with small colobomas (Po0.01, w 2 ), but coloboma size did not correspond with the presence of other ocular abnormalities. Conclusions Coloboma size, location, and associations in this series are consistent with our current understanding of eyelid embryogenesis. It is likely that those colobomas associated with other craniofacial and ocular abnormalities are those which result from errors earlier in embryogenesis during eyelid specification, growth, and closure, whereas isolated colobomas arise later during eyelid separation, and after codependent structures have developed.

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“…For example, Bavinck et al associated disruptions of the subclavian artery with extremity hypoplasia but not facial malformations 19 . Poswillo and McKenzie et al associated first and second branchial arch syndromes with stapedial artery anomalies [20][21][22] . However, these facts do not explain glossopalatine ankylosis in its pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes

Jung¹,

Smeets²,

Hanken³

et al. 2016

BIOMED PAP

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Aim. In order to provide adequate treatment to a patient with a subtype of Oromandibular Limb Hypogenesis Syndromes (OLHS), this study aimed to review and to analyze the current literature and treatment options of OLHS. Methods. Literature review in PubMed and Sciencedirect. Due to the small number of results, all available references were analyzed precisely. Results. Cases of OLHS are formerly rare and often incomplete. There are various classifications available, which, however, often seem confusing and are of little practical relevance. Furthermore, we present a complete case report of a patient with Charlie M syndrome, a type IV (Chicarilli)/ V (Hall) OLHS malformation. We also describe embryologic pathogenesis and differential diagnoses. Conclusion. As a result of our literature review, we recommend an adjusted classification for OLHS.

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The pathogenesis of the first and second branchial arch syndrome

Cited by 500 publications

References 16 publications

Prevalence at birth of congenital abnormalities of external ears in Hungary

Prevalence at birth of congenital abnormalities of external ears in Hungary

The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas

A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes

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