Adams Oliver syndrome – a variant

Anandan, V.; Parveen, B; Prabhavathy, D; Priyavarthini, V.

doi:10.1111/j.1365-4632.2008.03884.x

Cited by 7 publications

(12 citation statements)

References 4 publications

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“…ACC represents a heterogeneous group of disorders that occur in isolation or in association with various syndromes. [1][2][3][4] Since it was first described by Cordon in 1767 on an extremity in a neonate, 7 hundreds of reports have followed worldwide thereafter, and a number of associated abnormalities and syndromes have been described in the context of ACC. In 1986, Frieden classified ACC into nine subgroups.…”

Section: Discussionmentioning

confidence: 99%

“…8 Among them, group 2 AOS occurs in 84% of patients with non-membranous ACC, and is characterized by congenital skin absence with terminal transverse limb defects and a wide range of additional congenital anomalies. 1,4 Various central nervous system manifestations including microcephaly, mental retardation, epilepsy, and hydrocephalus can occur with this syndrome. 4 Anandan et al 4 reported a case of AOS associated with ventricular septal defect and Dandy-Walker variant.…”

Section: Discussionmentioning

confidence: 99%

“…It may present as a solitary disorder or may be associated with various anomalies as part of a syndrome . ACC associated with a transverse limb anomaly has been reported as Adams–Olivier syndrome (AOS; MIM 100 300), but association with brain anomaly is rarely reported …”

mentioning

confidence: 99%

“…[1][2][3] ACC associated with a transverse limb anomaly has been reported as Adams-Olivier syndrome (AOS; MIM 100 300), but association with brain anomaly is rarely reported. 4,5 To date, several causative mutations in ACC have been identified, including BMS1. 6 Nevertheless, it is not yet possible to identify the causative mutation in every case of ACC.…”

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confidence: 99%

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Familial aplasia cutis congenita associated with mega‐cisterna magna

Lee

Park

Choi

et al. 2016

Pediatrics International

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Aplasia cutis congenita (ACC; MIM 107600) is a congenital skin disorder that manifests as localized absence of skin. Here we report a case of familial ACC and mega-cisterna magna. A female neonate was born with skin defects on the scalp. Brain magnetic resonance imaging demonstrated retrocerebellar space widening suggesting mega-cisterna magna. Her father also had a skin defect on the scalp at birth, and brain computed tomography of the father showed a cystic lesion over the right occipital lobe, similar to the patient's brain imaging. Karyotype 46,XX, t(6;18)(q23.2;q11.2) was identified on G-banded karyotype analysis of the patient and her father, after which whole exome sequencing was carried out, but this was thought to be a coincidental finding. This indicates that ACC may be associated with brain anomaly, although it is very rare.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Familial aplasia cutis congenita associated with mega‐cisterna magna

Lee

Park

Choi

et al. 2016

Pediatrics International

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“…Associated features include a spectrum of anomalies ranging from skin tags to lymphedema, cardiac malformations, and brain abnormalities (microcephaly, epilepsy, mental retardation, Dandy-Walker malformation, and hydrocephalus). 1,5,6,20 Both autosomal-dominant and recessive inheritance have been found in afflicted patients. Most reported cases are sporadic; however, familial occurrence has also been described.…”

Section: Discussionmentioning

confidence: 99%

Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome

Khashab

Rhee

Pierce

et al. 2009

PED

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Adams-Oliver syndrome is a rare congenital disorder that includes congenital scalp and skull defects, variable degrees of terminal transverse limb anomalies, and cardiac malformations. Cutis aplasia occurring in 75% of patients is a potentially life-threatening condition. Large skin defects that cannot be closed primarily present a management dilemma, and may require skin grafting or flaps, or a combination of both operative and conservative modalities. The authors' experience in management of huge scalp and bone defects with the Integra Dermal Regeneration Template and regular dressing changes showed good scalp repair and no serious complications attributed to this approach.

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Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome

Algaze

Lowenthal

Hudgins

et al. 2013

American J of Med Genetics Pt A

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We describe a newborn with a phenotype consistent with Adams-Oliver syndrome and truncus arteriosus. Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of truncus arteriosus in a patient with Adams-Oliver syndrome. We review other reports of Adams-Oliver syndrome previously described with cardiovascular malformations, consider possible genetic and embryologic mechanisms, and emphasize the need for cardiology consultation when a diagnosis of Adams-Oliver syndrome is suspected in the differential diagnosis.

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Adams Oliver syndrome – a variant

Cited by 7 publications

References 4 publications

Familial aplasia cutis congenita associated with mega‐cisterna magna

Familial aplasia cutis congenita associated with mega‐cisterna magna

Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome

Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome

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