Congenital scalp defects with distal limb anomalies (Adams‐Oliver syndrome): Report of ten cases and review of the literature

Küster, Wolfgang; Lenz, W; Kääriäinen, Helena; Majewski, F.; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320310112

Cited by 93 publications

(81 citation statements)

References 19 publications

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“…The former are scalp lesions most frequently found on the vertex of the skull that are variable in depth as well as in size. 1,2 Often, skull defects underlying the scalp lesions are found. The most frequently observed limb malformations in this disorder include syndactyly (bony/cutaneous), brachydactyly, polydactyly, oligodactyly and hypoplastic finger/toenails.…”

Section: Introductionmentioning

confidence: 99%

Clinical and molecular analysis of nine families with Adams–Oliver syndrome

et al. 2003

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Adams-Oliver syndrome (AOS) is defined by the combination of limb abnormalities and scalp defects, often accompanied by skull ossification defects. We studied nine families affected with AOS, eight of which have not been clinically described before. In our patients, scalp abnormalities were most often found, followed by limb and skull defects. The most common limb abnormalities appeared to be brachydactyly, syndactyly of toes 2 and 3 and hypoplastic toenails. Additional features observed were cutis marmorata telangiectatica congenita, cryptorchidism and cardiac abnormalities. In an attempt to identify the diseasecausing mutations in our families, we selected two genes, ALX4 and MSX2, which were considered serious candidates based on their known function in skull and limb development. Mutation analysis of both genes, performed by direct sequencing, identified several polymorphisms, but no disease-causing mutations. Therefore, we can conclude that the AOS in our set of patients is not caused by mutations in ALX4 or MSX2.

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Section: Introductionmentioning

confidence: 99%

Clinical and molecular analysis of nine families with Adams–Oliver syndrome

et al. 2003

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“…Sendromun kalıtımı, ilk tanımlandığı ailede otozomal dominant olarak tanımlanmıştır. Daha sonra azalmış penetranslı otozomal dominant ve otozomal resesif formlar da bildirilmiştir [5][6][7][8]. Bunların dışında, vakaların çoğu sporadik olarak tanımlanmıştır.…”

Section: Discussionunclassified

Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi

Kurtulgan¹,

Bolat²,

Göktolga³

et al. 2013

CMJ

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Sendromu ilk defa 1945 yılında Adams ve Oliver tarafından tanımlanmıştır. Aplasia kutis konjenitale ve değişik derecede transvers ekstremite defektleri ile karakterize bir sendromdur. Bir günlük kız bebek aplazi kutis konjenita ve ekstremite defekti ile yenidoğan yoğun bakım ünitemize yatırıldı. Tanısı klinik özellikleri ve radyolojik bulgular ile konuldu. Bu olgu sunumunda biz, Adams Oliver sendromlu bir vaka sunduk ve literatürde bildirilen Adams Oliver sendromlu olguların klinik özelliklerini tartıştık.

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“…13 Nuestra paciente tenía el antecedente de un hijo muerto con acránea y el presente caso con encefalocele. Estas anomalías reflejan el grave defecto de osificación craneana sugeridas previamente por Kuster et al 2 y reportadas hasta en el 27% por Farrell.…”

Section: Figura 2 Imágenes Neonatales De Tomografía Computada Que Munclassified

“…5 Sin embargo, estas anomalías también se han visto en algunos casos con un aparente patrón autosómico dominante. 2,6 El objetivo de este artículo es presentar dos medio hermanas con una forma grave del síndrome de Adams Oliver además del hallazgo de una banda amniótica adherida a la placenta, enumerar las etiologías propuestas de este síndrome y sus modelos de herencia.…”

Section: Introductionunclassified