Acrania: A manifestation of the Adams‐Oliver syndrome

Chitayat, David; Meunier, Catherine; Hodgkinson, Kathy; Robb, Laura; Azouz, M.

doi:10.1002/ajmg.1320440506

Cited by 37 publications

(33 citation statements)

References 26 publications

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“…Recent papers have emphasized the clinical variability. Scalp defects vary from discrete focal defects with atrophic appearing skin and absent hair follicles to defects with dilated blood vessels and necrotic hemorrhagic areas involving large portions of the scalp and with absence of the underlying bone [Sybert, 1988;Toriello et al, 1988;Bonafede and Beighton, 1979;Wilson and Harcus, 1982;Burton et al, 1976;McMurray et al, 1977;Chitayat et a]., 19921.…”

Section: Discussionmentioning

confidence: 99%

Adams oliver syndrome: A family with extreme variability in clinical expression

et al. 1994

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We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families.

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Section: Discussionmentioning

confidence: 99%

Adams oliver syndrome: A family with extreme variability in clinical expression

et al. 1994

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“…Chitayat et al 3 fueron los primeros en describir un paciente con acránea, TTLD y defecto cutáneo. Ellos concluyeron que este fenotipo correspondía a un caso grave de AOS y sugirieron la búsqueda intencional de TTLD en pacientes con anencefalia.…”

Section: Figura 2 Imágenes Neonatales De Tomografía Computada Que Munclassified

“…1 Algunos reportes describen la presencia de encefalocele 2 y de acránea 3 como parte de una presentación grave de este síndrome.…”

Section: Introductionunclassified

Fenotipo grave en dos medio hermanas con síndrome de Adams Oliver

et al. 2014

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“…1 Some reports have described the presence of encephalocele 2 and acrania 3 as part of a severe form of this syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…In these cases, the clinical diagnosis may be difficult since ACC cannot be seen. Chitayat, et al 3 were the first to describe a patient with acrania, TTLD …”

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Severe phenotype in two half-sibs with Adams Oliver syndrome

2014

Arch Argent Pediat

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Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance.Objective. To present a family with two half-sibs with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report. A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. We propose that autosomal dominant inheritance with reduced penetrance or gonadal mosaicismhas to be considered in Adams Oliver syndrome with severe intracranial anomalies. Key words. Adams Oliver, aplasia cutis, terminal transverse limb defect.http://dx.doi.org/10.5546/aap.2014.eng.e108 IntroduCtIonIn 1945, Adams and Oliver 1 were the first to describe the combination of cranial aplasia cutis congenita (ACC) with terminal transverse limbs defects (TTLD). Since then, a wide phenotypic spectrum has been reported in these patients.The ACC is mostly localized at the vertex where it can be associated with different degrees of damage to the periosteum, bone and dura. 1 Some reports have described the presence of encephalocele 2 and acrania 3 as part of a severe form of this syndrome.Fryns 4 was the first to describe a probable association between Adams Oliver syndrome severe phenotype in two half-sibs with Adams oliver syndrome (AOS) with structural intracranial anomalies. It has been proposed that 32% of patients with autosomal recessive inheritance present a severe neurological phenotype with microcephaly, mental retardation and intracranial anomalies. However, these anomalies are also seen in cases with an apparent autosomal dominant inheritance. 2,6 The purpose of this paper is to report two half-sibs with severe Adams Oliver syndrome with the finding of an amniotic band attached to the placenta, to list possible etiologies and the inheritance patterns of this syndrome. Case reportA 27 year old woman G5, C2,A2, was referred to the Genetics Department at 16 weeks of gestation with an ultrasound that reported fetal hydrocephaly. She had the history of two spontaneous first trimester miscarriages with her first partner;an apparently healthy son who had a sudden death without an apparent cause at the age of 1 year 8 months and a female stillbirth from her second partner. That girl showed acrania and constriction rings with distal transversal limb defects of the left 4 th and 5 th finger; a clinical diagnosis of amniotic band syndrome was given at that time. The pathology report revealed meroacrania, amputation of the fifth finger of the left hand, complete left eye and partial right exophthalmos. Our proband is the daughter of the mother´s third partn...

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Acrania: A manifestation of the Adams‐Oliver syndrome

Cited by 37 publications

References 26 publications

Adams oliver syndrome: A family with extreme variability in clinical expression

Adams oliver syndrome: A family with extreme variability in clinical expression

Fenotipo grave en dos medio hermanas con síndrome de Adams Oliver

Severe phenotype in two half-sibs with Adams Oliver syndrome

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