Ehsanipoor Medicine Advanced biomedical research 2017 A 10-year-old boy is presented with extensive aplasia cutis congenita and limb anomalies as well as mild pachygyria and focal acrania in neuroimaging and it is crucial to investigate for internal organ [semanticscholar.org]

In some only hypoplastic fingers are noted whereas others present without hands and/or lower legs. Occasionally intellectual deficit and global developmental delayare seen. [epos.myesr.org]

AOS is a rare disease and even rarer with lesions on the abdomen, which is why this case is being presented [7]. [cureus.com]

If an underlying skull defect, is present then a bone graft may be necessary. [dermatologyadvisor.com]

The most frequent clinical manifestation of AOS is limb anomaly which is commonly asymmetric and presents in different forms such as syndactyly, brachydactyly, oligodactyly, polydactyly, and hypoplastic nails.[3] The second most common presentation is [advbiores.net]

• Developmental Delay

  delay Polymicrogyria Retrocerebellar cyst Seizure Ear malformation Low-set ears Protruding ear IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not [ncbi.nlm.nih.gov]

  Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet 2008;146A:488-491 3) Balasubramanian M, Collins AL. [epos.myesr.org]

  Other congenital anomalies, including cardiovascular malformations, cleft lip and/or palate, abnormal renal system, and neurologic disorders manifesting as seizure disorders and developmental delay are sometimes observed. [en.wikipedia.org]

  In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain. 2. [encyclopedia.pub]

  Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant. Am J Med Genet A 2008;146A: 488-91. [PUBMED] 6. [advbiores.net]

• Single Transverse Palmar Crease

  transverse palmar crease Abnormality of prenatal development or birth Oligohydramnios Abnormality of the eye Developmental cataract Hypertelorism Microphthalmia Optic atrophy Strabismus Abnormality of the integument Aplasia cutis congenita Cutis marmorata [ncbi.nlm.nih.gov]

• Developmental Disorder

  2019/23/1/35/250822 Introduction Adams–Oliver syndrome (AOS) is a rare developmental disorder with cutaneous, skeletal, cardiovascular, and neurological manifestations. [jddsjournal.org]

• Seizure

  Abnormality of the musculoskeletal system Generalized hypotonia Hypotonia Macrocephaly Microcephaly Micrognathia Abnormality of the nervous system Cerebellar hypoplasia Cerebral atrophy Global developmental delay Polymicrogyria Retrocerebellar cyst Seizure [ncbi.nlm.nih.gov]

  CMTC and cardiac malformations are common (20%), while ophthalmological abnormalities occur in <10%.2 Neurological deficits are uncommon, but more severe vascular phenotypes may have developmental problems and seizures.3 Different inheritance patterns [casereports.bmj.com]

  However, in severely affected patients, there is a greater chance for infection, excessive bleeding (hemorrhage), seizures, high pressure within the skull (brain herniation) and cerebrospinal fluid leakage. [rarediseases.org]

  Other congenital anomalies, including cardiovascular malformations, cleft lip and/or palate, abnormal renal system, and neurologic disorders manifesting as seizure disorders and developmental delay are sometimes observed. [en.wikipedia.org]

  AOS may be associated with a variety of CNS complications such as microcephaly, encephalocele, polymicrogyria, ventriculomegaly, hypoplastic corpus callosum, seizure disorders, developmental delay, and mental retardation.[5],[13] Small parenchymal cyst-like [advbiores.net]

• Meningism

  ACC lesions of more than 5 cm in diameter may require surgery with skin grafting and have a tendency to affect the skull bone and even the dura, resulting in a higher risk for potentially lethal complications, such as infections (fatal meningitis), thrombosis [accessanesthesiology.mhmedical.com]

  However, individuals with more severe scalp and cranial defects may experience complications such as hemorrhage and meningitis, leading to long-term disability. [en.wikipedia.org]

  Although there is no lethal internal organ involvement, meningitis and infections can be potential complications, so a regular follow-up is essential. [cureus.com]

• Neurologic Manifestation

  2019/23/1/35/250822 Introduction Adams–Oliver syndrome (AOS) is a rare developmental disorder with cutaneous, skeletal, cardiovascular, and neurological manifestations. [jddsjournal.org]

We present a case of a newborn with characteristic clinical and imaging features of AOS2 to familiarize the radiologist with these features, since accurate radiological workup may be valuable in determining the definite diagnosis, which ultimately is [epos.myesr.org]

[…] valvular defects, stenotic lesions of left heart, cardiomyopathy, heart block, malformation of pulmonary vessels, and progressive pulmonary hypertension have been reported in AOS patients.[6],[15],[16] Therefore, echocardiography for screening or regular workup [advbiores.net]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Treatment depends on the severity and specific features in each person, and often involves a team of specialists. Support Organizations Children’s Alopecia Project, Inc. [globalgenes.org]

Treatment Options Treatment of AOS is mainly non-operative. ACC of the scalp should be allowed to heal in by secondary intention. As the child’s hair grows, the ACC scar can be concealed. [dermatologyadvisor.com]

Her scalp ulcers healed with scarring following 3-week treatment with local dressing and topical 2% fusidic acid cream. [jddsjournal.org]

Long-term prognosis for Adams–Oliver syndrome is difficult to predict: it is not adequately described in medical literature due to a dearth of cases. [dermnetnz.org]

[citation needed] Prognosis[edit] The overall prognosis is excellent in most cases. Most children with Adams–Oliver syndrome can likely expect to have a normal life span. [en.wikipedia.org]

Another proposed etiology of AOS includes abnormal pericyte recruitment, supported by a mouse model in which ALK1-deficient mice show poor migration, recruitment, and proliferation of pericytes. [dermatologyadvisor.com]

Minoo Saeidi Imam Hossein Children Hospital, Isfahan University of Medical Sciences, Isfahan Iran Source of Support: None, Conflict of Interest: None DOI: 10.4103/2277-9175.221861 Adams–Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology [advbiores.net]

[citation needed] Epidemiology[edit] AOS is a rare genetic disorder and the annual incidence or overall prevalence of AOS is unknown. [en.wikipedia.org]

The Adams-Oliver syndrome in Spain: the epidemiological aspects An Esp Pediatr. 1996;45:57-61. [PubMed: 8849132] McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

Pathophysiology The pathophysiologic mechanism of AOS remains unknown. [accessanesthesiology.mhmedical.com]

Pathophysiology Many genes have been implicated in the development of AOS. [dermatologyadvisor.com]

The exposed dura was covered with artificial dermis on the seventh day of life to prevent hemorrhage and infection. Postoperative complications included septicemia and repeated longitudinal sinus bleeding despite abdominal muscle fascia grafting. [jamanetwork.com]

The altered protein is unable to bind to DNA, preventing it from turning on particular genes. These changes in gene activity impair the proper development of the skin, bones, and other tissues, leading to the features of Adams-Oliver syndrome. [encyclopedia.pub]

Wearing helmets may be recommended for some children with AOS to prevent trauma to the head and potential damage to the wide blood vessels. [rarediseases.org]

If the dura is exposed, it should be covered with full-thickness skin flaps or moist dressings to prevent eschar formation, as they carry high risk of infection and life-threatening hemorrhage. [dermatologyadvisor.com]