Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome

Abstract

Background Adams-Oliver syndrome is characterized by the combination of congenital scalp defects and terminal transverse limb defects. In some instances, cardiovascular malformations and orofacial malformations have been observed. Little is written with regards to the anesthetic management and airway concerns of patients with Adams-Oliver syndrome. Case presentation A five-year-old female with Adams-Oliver syndrome presented for repeat lower extremity surgery. Airway exam was significant for dysmorphic features, such as hypertelorism, deviated jaw, and retrognathia. Video laryngoscope was utilized for intubation due to the patients retrognathic jaw, cranial deformities, and facial dysmorphism. A vein finder with ultrasound guidance was needed to place the peripheral intravenous line due to her history of difficult intravenous access. The patient was successfully intubated with slight cricoid pressure applied to direct the endotracheal tube smoothly. Surgery and recovery were both unremarkable. Conclusions Due to varying presentations of Adams-Oliver syndrome, anesthetic and airway management considerations should be carefully assessed prior to surgery. Anesthesiologists must take into consideration possible orofacial abnormalities that may make intubation difficult. Amniotic band syndrome and other limb defects could potentially impact intravenous access as well.

Adams–Oliver syndrome: About a case

“…Our patient had no central nervous system anomalies, as no abnormalities were detected either on neurological examination or on the transfontanellar ultrasound performed. Several genes (ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4) have been identified as linked to this syndrome, but without genotype–phenotype correlation 5,10,11 . The pathophysiological mechanism is not well‐elucidated.…”

“…Several modes of transmission have been described: autosomal dominant, autosomal recessive, and sporadic mutations 7–9 . Six genes responsible for Adams–Oliver syndrome have been identified, including ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT 5,10,11 . We report the case of a term newborn with severe intrauterine growth retardation (IUGR) presenting with typical signs of Adams–Oliver syndrome without associated visceral complications.…”

“…The lesions of ACC are generally located on the midline of the parietal or occipital regions, where they may be associated with a parietal bone defect, but may also appear on the abdomen or limbs 1–3 . First described by Adams and Oliver in 1945, this syndrome also presents severe forms of expression, including central nervous system anomalies, cardiovascular disease, and gastrointestinal malformations 1,4–6 . Several modes of transmission have been described: autosomal dominant, autosomal recessive, and sporadic mutations 7–9 .…”

“…[1][2][3] First described by Adams and Oliver in 1945, this syndrome also presents severe forms of expression, including central nervous system anomalies, cardiovascular disease, and gastrointestinal malformations. 1,[4][5][6]…”

“…[7][8][9] Six genes responsible for Adams-Oliver syndrome have been identified, including ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT. 5,10,11 We report the case of a term newborn with severe intrauterine growth retardation (IUGR) presenting with typical signs of Adams-Oliver syndrome without associated visceral complications. This syndrome remains rare and poorly described in the scientific literature in Burundi.…”