Revision as of 02:28, 15 September 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.

Overview

Aicardi syndrome is a rare malformation characterized by the partial or total absence of the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Physical examination demonstrate microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Aicardi syndrome is an inherited X-linked dominant disorder trait that is incompatible with life in males.

Historical Perspective

In 1946, Krause described a 2-months old girl with seizures, mental retardation, and microcephalus which later died from pneumonia.^[1]
In 1959, Klein described in an article called "The Pathogenesis of an Atypical Coloboma of the Choroid" an almost identical case of a 2-months old girls with same clinical and anatomopathologic findings as Krause.^[2]
Aicardi syndrome was first fully described by the French neurologist Jean Aicardi in 1965 in his article "A new syndrome: Spasm in flexion, Callosal agenesis, Ocular abnormalities".^[3]^[4]
Historically, Aicardi syndrome was characterized by the triad of infantile spasms, chorioretinal lacunae and agenesis of the corpus callosum.^[4]

Classification

There is no established system for classification of Aicardi syndrome..

Pathosphysiology

Genetics

The mutated gene in Aicardi syndrome has not been identified.^[5]
It is thought that Aicardi syndrome is caused by de novo mutations in X-chromosome that cause its inactivation. There are no reported cases of transmitted deffective X chromosome. ^[6]
Attempts to identify the mutated gene in Aicardi syndrome by X-chromosome DNA microarrays, comparative hybridization, and genome sequencing have been unsuccessfull.^[7]^[8]
Most of the cases, Aicardi syndrome appears to be lethal in males with only one X chromosome.^[5]
Rare cases of males with Aicardi syndrome have been reported, these present with a XXY karyotype (Klinefelter syndrome).^[9]^[10] Cases with XY karyotype are thought to be caused by mosaicisms.^[11]^[12]

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating Aicardi syndrome from Other Diseases

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:

[Differential dx1]
[Differential dx2]
[Differential dx3]

Epidemiology and Demographics

Aicardi syndrome is a very rare condition. A precise prevalence and incidence has not been calculated.
Around 500 cases of Aicardi syndrome have been reported worldwide.

Gender

Females are much more commonly affected with Aicardi syndrome than males.^[5]

The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].

Age[edit | edit source]

Patients of all age groups may develop [disease name].

[Disease name] is more commonly observed among patients aged [age range] years old.
[Disease name] is more commonly observed among [elderly patients/young patients/children].

Gender[edit | edit source]

[Disease name] affects men and women equally.

[Gender 1] are more commonly affected with [disease name] than [gender 2].
The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.

Race[edit | edit source]

There is no racial predilection for [disease name].

[Disease name] usually affects individuals of the [race 1] race.
[Race 2] individuals are less likely to develop [disease name].

Risk Factors

Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Screening

Natural History, Complications, Prognosis

Prognosis for Aicardi syndrome is variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.^[5]

Children are most commonly identified with Aicardi syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development.

Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems.

The prognosis varies widely from case to case. However, all individuals reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in moderate to profound mental retardation. The age range of the individuals reported with Aicardi syndrome is from birth to the mid 40’s. Aicardi syndrome appears to be lethal in normal males who have only one X chromosome (and a Y chromosome).

The majority of patients with [disease name] remain asymptomatic for [duration/years].
Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
Prognosis is generally [excellent/good/poor], and the [1/5/10year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Diagnostic Criteria

The diagnosis of Aicardi syndrome according to Sutton et al.^[13] (modified from Aicardi 1999^[14])is made by the presence of all 3 classic features or 2 classic features plus 2 major features; in addition there are supporting features that make diagnosis more reliable.^[15]

Diagnosis of Aicardi syndrome
Classic features	Agenesis of the corpus callosum
	Infantile spasms
	Distinctive chorioretinal lacunae
Major features	Cortical malformations
	Periventricular and subcortical heterotopia
	Cysts around third cerebral ventricle and/or choroid plexus
	Optic disc/nerve coloboma or hypoplasia
Supporting features	Vertebral and rib abnormalities
	Microphthalmia
	"Split-brain" EEG
	Gross cerebral hemispheric asymmetry
	Vascular malformations or vascular malignancy

History and Symptoms

[Disease name] is usually asymptomatic.
Symptoms of [disease name] may include the following:

[symptom 1]
[symptom 2]
[symptom 3]
[symptom 4]
[symptom 5]
[symptom 6]

Physical Examination

Neurologic

Axial hypotonia^[16]
Appendicular hypertonia with spasticity^[16]
Brisk deep tendon reflexes^[16]
Hemiparesis
With or without intellectual disability^[17]^[18]
Nystagmus

Ophthalmologic

Chorioretinal lacunae^[19]^[20]
Unilateral microphthalmia
Optic nerve coloboma
Detached retina
Optic nerve dysplasia or hypoplasia
Persistent fetal vasculature

Craniofacial

Microcephaly
Short philtrum
Prominent premaxilla
Large ears
Sparse lateral eyebrows^[21]
Plagiocephaly
Cleft lip and palate

Skeletal

Costovertebral defects (hemivertebrae, block vertebrae, fused vertebrae, and missing ribs)
Scoliosis^[22]
Hip dysplasia

Laboratory Findings

There are no specific laboratory findings associated with [disease name].

A [positive/negative] [test name] is diagnostic of [disease name].
An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

EEG

EEG findings include asynchronous multifocal epileptiform abnormalities with burst suppression and dissociation between the two hemispheres (split brain).

Electrocardiogram

There are no ECG findings associated with [disease name]. OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

X-ray

There are no x-ray findings associated with [disease name]. OR

An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. OR

There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with [disease name]. OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

CT scan

There are no CT scan findings associated with [disease name]. OR

[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

There are no MRI findings associated with [disease name]. OR

[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. OR

There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Other Imaging Findings

There are no other imaging findings associated with [disease name]. OR

[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

There are no other diagnostic studies associated with [disease name]. OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems. Treatment for prencephalic cysts and/or hydrocephalus is often via a shunt or endoscopic fenestration of the cysts, though some require no treatment. Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.

Medical Therapy

=

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Clinical Trials
Ongoing Trials on Aicardi syndrome at Clinical Trials.gov Trial results on Aicardi syndrome Clinical Trials on Aicardi syndrome at Google
Guidelines / Policies / Govt
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Books
Books on Aicardi syndrome
News
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Commentary
Blogs on Aicardi syndrome
Definitions
Definitions of Aicardi syndrome
Patient Resources / Community
Patient resources on Aicardi syndrome Discussion groups on Aicardi syndrome Patient Handouts on Aicardi syndrome Directions to Hospitals Treating Aicardi syndrome Risk calculators and risk factors for Aicardi syndrome
Healthcare Provider Resources
Symptoms of Aicardi syndrome Causes & Risk Factors for Aicardi syndrome Diagnostic studies for Aicardi syndrome Treatment of Aicardi syndrome
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International
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Business
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Experimental / Informatics
List of terms related to Aicardi syndrome

There is no treatment for [disease name]; the mainstay of therapy is supportive care.

The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
[Medical therapy 1] acts by [mechanism of action 1].
Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration]. ===

Surgery

=

Surgery is the mainstay of therapy for [disease name].
[Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
[Surgical procedure] can only be performed for patients with [disease stage] [disease name]. ===

Prevention

=

There are no primary preventive measures available for [disease name].

Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3]. ===

Support Organizations

Aicardi Syndrome Foundation Support and information for families caring for children with Aicardi Syndrome.
A.A.L Syndrome d'Aicardi
Sindrome di Aicardi

References

↑ KRAUSE AC (October 1946). "Congenital encephalo-ophthalmic dysplasia". Arch Ophthal. 36 (4): 387–44. doi:10.1001/archopht.1946.00890210395001. PMID 21002031.
↑ KLIEN BA (November 1959). "The pathogenesis of some atypical colobomas of the choroid". Am. J. Ophthalmol. 48: 597–607. doi:10.1016/0002-9394(59)90450-7. PMID 14409836.
↑ Wong, Bibiana K. Y.; Sutton, V. Reid (2018). "Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. doi:10.1002/ajmg.c.31658. ISSN 1552-4868.
↑ ^4.0 ^4.1 "www.int-pediatrics.org" (PDF).
↑ ^5.0 ^5.1 ^5.2 ^5.3 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
↑ Van den Veyver IB (2002). "Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?". Cytogenet. Genome Res. 99 (1–4): 289–96. doi:10.1159/000071606. PMID 12900577.
↑ Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB (October 2009). "A genome-wide screen for copy number alterations in Aicardi syndrome". Am. J. Med. Genet. A. 149A (10): 2113–21. doi:10.1002/ajmg.a.32976. PMC 3640635. PMID 19760649.
↑ Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P (2007). "Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH". Eur J Med Genet. 50 (5): 386–91. doi:10.1016/j.ejmg.2007.05.006. PMID 17625997.
↑ Zubairi MS, Carter RF, Ronen GM (February 2009). "A male phenotype with Aicardi syndrome". J. Child Neurol. 24 (2): 204–7. doi:10.1177/0883073808322337. PMID 19182158.
↑ Shetty J, Fraser J, Goudie D, Kirkpatrick M (July 2014). "Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?". Eur. J. Paediatr. Neurol. 18 (4): 529–31. doi:10.1016/j.ejpn.2014.03.004. PMID 24657013.
↑ Chappelow AV, Reid J, Parikh S, Traboulsi EI (December 2008). "Aicardi syndrome in a genotypic male". Ophthalmic Genet. 29 (4): 181–3. doi:10.1080/13816810802320209. PMID 19005990.
↑ Anderson S, Menten B, Kogelenberg M, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P (February 2009). "Aicardi syndrome in a male patient". Neuropediatrics. 40 (1): 39–42. doi:10.1055/s-0029-1220760. PMID 19639527. Vancouver style error: initials (help)
↑ Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
↑ "www.int-pediatrics.org" (PDF).
↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
↑ ^16.0 ^16.1 ^16.2 Aicardi J (April 2005). "Aicardi syndrome". Brain Dev. 27 (3): 164–71. doi:10.1016/j.braindev.2003.11.011. PMID 15737696.
↑ Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A (June 2003). "[Aicardi syndrome with favorable outcome]". Arch Pediatr (in French). 10 (6): 530–2. doi:10.1016/s0929-693x(03)00095-2. PMID 12915018.
↑ Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P (August 2007). "Aicardi syndrome with favorable outcome: case report and review". Brain Dev. 29 (7): 443–6. doi:10.1016/j.braindev.2006.11.011. PMID 17207597.
↑ Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.
↑ Palmér L, Zetterlund B, Hård AL, Steneryd K, Kyllerman M (June 2006). "Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002". Neuropediatrics. 37 (3): 154–8. doi:10.1055/s-2006-924486. PMID 16967367.
↑ Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
↑ Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.

de:Aicardi-Syndrom fi:Aicardin oireyhtymä

Template:WS Template:WH

[pmid21002031-1] KRAUSE AC (October 1946). "Congenital encephalo-ophthalmic dysplasia". Arch Ophthal. 36 (4): 387–44. doi:10.1001/archopht.1946.00890210395001. PMID 21002031.

[pmid14409836-2] KLIEN BA (November 1959). "The pathogenesis of some atypical colobomas of the choroid". Am. J. Ophthalmol. 48: 597–607. doi:10.1016/0002-9394(59)90450-7. PMID 14409836.

[WongSutton2018-3] Wong, Bibiana K. Y.; Sutton, V. Reid (2018). "Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. doi:10.1002/ajmg.c.31658. ISSN 1552-4868.

[urlwww.int-pediatrics.org-4] 4.0 ^4.1 "www.int-pediatrics.org" (PDF).

[pmid20301555-5] 5.0 ^5.1 ^5.2 ^5.3 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)

[pmid12900577-6] Van den Veyver IB (2002). "Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?". Cytogenet. Genome Res. 99 (1–4): 289–96. doi:10.1159/000071606. PMID 12900577.

[pmid19760649-7] Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB (October 2009). "A genome-wide screen for copy number alterations in Aicardi syndrome". Am. J. Med. Genet. A. 149A (10): 2113–21. doi:10.1002/ajmg.a.32976. PMC 3640635. PMID 19760649.

[pmid17625997-8] Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P (2007). "Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH". Eur J Med Genet. 50 (5): 386–91. doi:10.1016/j.ejmg.2007.05.006. PMID 17625997.

[pmid19182158-9] Zubairi MS, Carter RF, Ronen GM (February 2009). "A male phenotype with Aicardi syndrome". J. Child Neurol. 24 (2): 204–7. doi:10.1177/0883073808322337. PMID 19182158.

[pmid24657013-10] Shetty J, Fraser J, Goudie D, Kirkpatrick M (July 2014). "Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?". Eur. J. Paediatr. Neurol. 18 (4): 529–31. doi:10.1016/j.ejpn.2014.03.004. PMID 24657013.

[pmid19005990-11] Chappelow AV, Reid J, Parikh S, Traboulsi EI (December 2008). "Aicardi syndrome in a genotypic male". Ophthalmic Genet. 29 (4): 181–3. doi:10.1080/13816810802320209. PMID 19005990.

[pmid19639527-12] Anderson S, Menten B, Kogelenberg M, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P (February 2009). "Aicardi syndrome in a male patient". Neuropediatrics. 40 (1): 39–42. doi:10.1055/s-0029-1220760. PMID 19639527. Vancouver style error: initials (help)

[pmid16158440-13] Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.

[urlwww.int-pediatrics.org2-14] "www.int-pediatrics.org" (PDF).

[pmid203015552-15] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)

[pmid15737696-16] 16.0 ^16.1 ^16.2 Aicardi J (April 2005). "Aicardi syndrome". Brain Dev. 27 (3): 164–71. doi:10.1016/j.braindev.2003.11.011. PMID 15737696.

[pmid12915018-17] Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A (June 2003). "[Aicardi syndrome with favorable outcome]". Arch Pediatr (in French). 10 (6): 530–2. doi:10.1016/s0929-693x(03)00095-2. PMID 12915018.

[pmid17207597-18] Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P (August 2007). "Aicardi syndrome with favorable outcome: case report and review". Brain Dev. 29 (7): 443–6. doi:10.1016/j.braindev.2006.11.011. PMID 17207597.

[pmid2773986-19] Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.

[pmid16967367-20] Palmér L, Zetterlund B, Hård AL, Steneryd K, Kyllerman M (June 2006). "Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002". Neuropediatrics. 37 (3): 154–8. doi:10.1055/s-2006-924486. PMID 16967367.

[pmid161584402-21] Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.

[pmid27739862-22] Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.

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Aicardi syndrome: Difference between revisions