Search results for "Adams–Oliver syndrome"
showing 2 items of 2 documents
Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome.
1992
Summary We describe an 18-month-old boy with multifocal scalp defects over the posterior parietal region combined with an underlying defect of the skull, left lower limb distal hemimelia and generalized cutis marmorata telangiectatica, consistent with a diagnosis of Adams–Oliver syndrome (aplasia cutis congenita with distal transverse limb defects).
Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies
2015
Background— Adams–Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. Methods and Results— Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregat…