Autosomal dominant congenital Horner's syndrome in a Dutch family.

Hageman, G.; Ippel, P. F.; Nijenhuis, F. C. A. M. Te

doi:10.1136/jnnp.55.1.28

Cited by 18 publications

(4 citation statements)

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“…Superior cervical ganglion 1 is located around the carotid bifurcation. Facial anhidrosis and flushing coincides with preganglionic localization of the sympathetic defect, whereas a lesion distal to the carotid bifurcation produces ptosis and meiosis without anhidrosis and facial flushing [9]. In our patient, absence of the right carotid channel in skull base CT scan was consistent with congenital agenesis of the right ICA and the absence of facial anhidrosis was suggestive of postganglionic interruption of the sympathetic pathway early in the fetal life.…”

Section: Discussionmentioning

confidence: 50%

Congenital horner's syndrome associated with unilateral agenesis of the internal carotid artery and unusual aortic arch anomaly

et al. 2011

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Section: Discussionmentioning

confidence: 50%

Congenital horner's syndrome associated with unilateral agenesis of the internal carotid artery and unusual aortic arch anomaly

et al. 2011

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“…The coexistence of congenital Horner’s syndrome and agenesis of the ICA is exceptional and is reported in around 10 cases in the literature. 1 , 4 , 14 , 15 One possible explanation of this unusual association is the interruption of the ocular sympathetic nerve along the ICA and its incapacity to gain access to the cranium in the absence of this artery during embryogenesis. 15 …”

Section: Discussionmentioning

confidence: 99%

Congenital agenesis of internal carotid artery with ipsilateral Horner presenting as focal neurological symptoms

Farhat¹,

Ahdab²,

Hosseini

2011

VHRM

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Internal carotid artery (ICA) agenesis is a rare developmental anomaly and is most frequently asymptomatic, but it may also present as cerebrovascular accidents. The association with Horner’s syndrome is exceptional. We present three cases of agenesis of ICA associated with Horner’s syndrome and hypochromia iridum presenting as focal neurological symptoms. A system of collaterals develops as a consequence of agenesis of the ICA, making the majority of cases asymptomatic. Three types of collateral circulations have been described. These collaterals increase the risk of aneurysm formation and the occurrence of life-threatening subarachnoid hemorrhages. The association of congenital Horner’s syndrome and hypochromia iridum without anhidrosis is highly suggestive of sympathetic pathway injury early in life. Such signs should prompt further diagnostic evaluation to demonstrate the presence of the agenesis of the carotid canal. Early diagnosis is essential to rule out potentially life-threatening associated vascular anomalies.

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“…The prevalence of Horner's syndrome was reported to be 1.42/100,000 in patients younger than 19 years, with a birth prevalence of 1/6,250 for those with a congenital onset [42]. Autosomal dominant inheritance of congenital Horner's syndrome has been reported in family cases [43]. However, genetic studies have been very scarce to date.…”

Section: Horner's Syndromementioning

confidence: 99%

Advances in the Genetics of Congenital Ptosis

Zhang

et al. 2021

Ophthalmic Res

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Congenital ptosis, a birth defects presents at birth or by 1 year of age, is characterized by the drooping of the upper eyelid. either in isolation (non-syndromic) or with many different systemic disorders (syndromic). The estimated prevalence of ptosis (congenital & acquired) ranges from 0.79 to 1.99 per 10,000 people in different populations, and it is more prevalent in males. The underlying pathogenesis of congenital ptosis are myogenic and neurogenic, related to the development of muscles and nerves. Although most cases are sporadic, there are familial transmission characteristics, including autosomal dominant, recessive mode and X-linkage inheritance patterns. Moreover, some forms are due to chromosomal aberrations and mutations and deletions in mitochondrial DNA. Genes involved in simple congenital ptosis are ZFHX4 and COL25A1. The clinical aspects of various syndromes involving congenital ptosis are partly caused by single gene mutations. However, the pathogenesis of congenital ptosis is not fully understood. We review the reported epidemiology, genetics and clinical features of congenital ptosis and associated syndromes here.

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Autosomal dominant congenital Horner's syndrome in a Dutch family.

Cited by 18 publications

References 5 publications

Congenital horner's syndrome associated with unilateral agenesis of the internal carotid artery and unusual aortic arch anomaly

Congenital horner's syndrome associated with unilateral agenesis of the internal carotid artery and unusual aortic arch anomaly

Congenital agenesis of internal carotid artery with ipsilateral Horner presenting as focal neurological symptoms

Advances in the Genetics of Congenital Ptosis

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