Adams-Oliver syndrome is a rare genetic condition that consists of aplasia cutis congenita, skull defects, and limb malformations. Other manifestations may be present as well. The diagnosis is achieved through the personal and family medical history, physical exam, and appropriate tests.
Adams-Oliver syndrome is a genetic disorder defined by aplasia cutis congenita and defects of the skull and limbs  . While the etiology of Adams-Oliver syndrome is unclear , the mode of inheritance may be autosomal dominant (most common), autosomal recessive, or sporadic  . Note that this disease manifests in various degrees of severity .
Aplasia cutis congenita in affected patients is characterized by bald areas on the scalp that are remarkable for scarring and ulcers. The underlying cutaneous vessels may be abnormally dilated and prone to hemorrhage . The scalp lesions heal spontaneously in infancy.
Affected patients may exhibit missing segments in their skull and malformation of their hands, feet, and/or digits . Specifically, some or all bones in affected areas may be hypoplastic or absent. These findings are typically more pronounced in the lower extremities.
Adams-Oliver syndrome may include intracranial features ranging from periventricular calcifications to cortical dysplasia and other severe manifestations  . Additionally, cardiac manifestations such as septal defects and aortic coarctation may be present . Moreover, some patients exhibit renal anomalies, cryptorchidism, cleft palate, abnormal lymphatics, and so forth . A congenital hepatic shunt has been described in the literature  . A developmental delay may also be noticeable .
Scalp lesions may bleed and lead to infection and even meningitis. Also, affected individuals experience physical disabilities as a consequence of deformed extremities. Finally, long-term sequelae from cardiac involvement may result in heart failure and other comorbidities.
Inspection of the scalp allows the clinician to visualize atrophic hairless plaques which are commonly located on the vertex of the head . Also, digits appear to be short and telangiectasias may be observed on the limbs and abdomen .
Entire Body System
The diagnosis is based on the physical exam, a thorough family history, and the appropriate studies.
Skeletal radiography should include evaluation of the skull, hands, and feet . Typically acrania is observed corresponding to sites of scalp lesions . Additionally, other skeletal findings may include a partial or complete absence of bones in limbs and digits  .
Findings on computed tomography (CT) of the head may include features such as periventricular calcifications and abnormalities of the sulci and gyri . Note that a head CT will also identify skull defects.
Magnetic resonance imaging (MRI) of the brain may display a hypoplastic corpus callosum , cystic cortical dysplasia , sinus thrombosis , and/or infarcts . Very importantly, an MRI angiogram demonstrates the presence of extrahepatic portosystemic shunts .
Patients with Adams-Oliver syndrome also warrant a cardiac assessment with echocardiography and possibly cardiac catheterization   . Chest studies with radiography and CT scanning with contrast are also performed to evaluate for the presence of arteriovenous malformations (AVM) .
Other indicated imaging modalities include Doppler ultrasonography to evaluate for vasculature malformations , intravenous pyelography, abdominal ultrasound, and pelvic ultrasound . Finally, skin biopsy with special staining could also be useful .
Routine prenatal ultrasonography may detect the range of the above deformities in an affected fetus.
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