Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. Cardiovascular anomalies are also frequently observed. Mutations in five genes have been identified as a cause for AOS prior to this report.

[A man with a tumour of the lower eyelid].

A 41-year-old patient presented with a tumour arising from the palpebral conjunctiva of the right lower eyelid. Diagnostic excision of the tumour occurred under local anaesthetics. Pathological examination showed a pyogenic granuloma, without malignant cells.

Split rib cranioplasty for aplasia cutis congenita and traumatic skull defects: more than 30 years of follow-up.

Aplasia cutis is a rare skin defect usually presenting over the vertex of the skull. An underlying bone defect is found in approximately 20% of patients. Most skull defects close spontaneously.