U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chiari malformation

MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Synonym: Arnold-Chiari malformation
SNOMED CT: Arnold-Chiari syndrome (253184003); Chiari malformation (253184003)
 
HPO: HP:0002308
Monarch Initiative: MONDO:0000115
OMIM®: 207950

Definition

Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. [from HPO]

Conditions with this feature

Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.
Pfeiffer syndrome
MedGen UID:
67390
Concept ID:
C0220658
Disease or Syndrome
Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.
Baller-Gerold syndrome
MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
Neonatal pseudo-hydrocephalic progeroid syndrome
MedGen UID:
140806
Concept ID:
C0406586
Disease or Syndrome
Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).
Chiari type II malformation
MedGen UID:
108222
Concept ID:
C0555206
Congenital Abnormality
Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420).
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Fanconi anemia complementation group I
MedGen UID:
323016
Concept ID:
C1836861
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Eiken syndrome
MedGen UID:
325097
Concept ID:
C1838779
Congenital Abnormality
Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.
Exstrophy-epispadias complex
MedGen UID:
338020
Concept ID:
C1850321
Disease or Syndrome
Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported.
Beare-Stevenson cutis gyrata syndrome
MedGen UID:
377668
Concept ID:
C1852406
Disease or Syndrome
Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996).
Pierpont syndrome
MedGen UID:
356049
Concept ID:
C1865644
Disease or Syndrome
Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).
Loeys-Dietz syndrome 2
MedGen UID:
382398
Concept ID:
C2674574
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Alveolar capillary dysplasia with pulmonary venous misalignment
MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MedGen UID:
461449
Concept ID:
C3150099
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Craniosynostosis and dental anomalies
MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).
Craniofacial microsomia 1
MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.
Meckel syndrome, type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.
Luscan-Lumish syndrome
MedGen UID:
898669
Concept ID:
C4085873
Disease or Syndrome
Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)
Sifrim-Hitz-Weiss syndrome
MedGen UID:
934655
Concept ID:
C4310688
Disease or Syndrome
CHD4 neurodevelopmental disorder (CHD4-NDD) is associated with developmental delay, speech delay, and usually mild-to-moderate intellectual disability. Variability between individuals with CHD4-NDD is significant, and a few have normal intelligence. Other manifestations can include brain anomalies, heart defects, and skeletal abnormalities; less common features are hypogonadism in males, hearing impairment, and ophthalmic abnormalities. Most affected individuals have mild nonspecific dysmorphic facial features with or without macrocephaly.
Fanconi anemia, complementation group W
MedGen UID:
1621245
Concept ID:
C4521564
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Loeys-Dietz syndrome 1
MedGen UID:
1646567
Concept ID:
C4551955
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Spondyloepimetaphyseal dysplasia, Krakow type
MedGen UID:
1648323
Concept ID:
C4748455
Disease or Syndrome
Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).
Noonan syndrome 12
MedGen UID:
1684730
Concept ID:
C5231432
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Genitourinary and/or brain malformation syndrome
MedGen UID:
1720440
Concept ID:
C5394158
Disease or Syndrome
Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, commonly including brain and/or urogenital malformations. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye abnormalities and skeletal issues (kyphoscoliosis, joint contractures) can also be present in individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a disorder of sex development (DSD) with gonadal abnormalities (dysgenetic gonads or streak gonads). Individuals with a 46,XX chromosome complement may have varying degrees of virilization (clitoral hypertrophy, posterior labial fusion, urogenital sinus).
IFAP syndrome 1, with or without BRESHECK syndrome
MedGen UID:
1746744
Concept ID:
C5399971
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.
Blepharophimosis-impaired intellectual development syndrome
MedGen UID:
1779966
Concept ID:
C5443984
Disease or Syndrome
Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by Cappuccio et al., 2020).
Coffin-Siris syndrome 12
MedGen UID:
1782096
Concept ID:
C5444111
Disease or Syndrome
Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).

Professional guidelines

PubMed

Ravindra VM, Brockmeyer DL
Neurosurg Clin N Am 2023 Jan;34(1):143-150. Epub 2022 Nov 3 doi: 10.1016/j.nec.2022.08.009. PMID: 36424054
Rosenblum JS, Pomeraniec IJ, Heiss JD
Neurol Clin 2022 May;40(2):297-307. Epub 2022 Mar 31 doi: 10.1016/j.ncl.2021.11.007. PMID: 35465876Free PMC Article
Giner J, Pérez López C, Hernández B, Gómez de la Riva Á, Isla A, Roda JM
Neurologia (Engl Ed) 2019 Jun;34(5):318-325. Epub 2016 Dec 9 doi: 10.1016/j.nrl.2016.09.010. PMID: 27939111

Recent clinical studies

Etiology

Pindrik J, McAllister AS, Jones JY
Neurosurg Clin N Am 2023 Jan;34(1):67-79. doi: 10.1016/j.nec.2022.08.006. PMID: 36424066
Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
Albert GW
Pediatr Clin North Am 2021 Aug;68(4):783-792. doi: 10.1016/j.pcl.2021.04.015. PMID: 34247709
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
Mehta A, Chilakamarri P, Zubair A, Kuruvilla D
Curr Pain Headache Rep 2018 Jun 14;22(7):49. doi: 10.1007/s11916-018-0702-8. PMID: 29904826

Diagnosis

Rosenblum JS, Pomeraniec IJ, Heiss JD
Neurol Clin 2022 May;40(2):297-307. Epub 2022 Mar 31 doi: 10.1016/j.ncl.2021.11.007. PMID: 35465876Free PMC Article
Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
Giner J, Pérez López C, Hernández B, Gómez de la Riva Á, Isla A, Roda JM
Neurologia (Engl Ed) 2019 Jun;34(5):318-325. Epub 2016 Dec 9 doi: 10.1016/j.nrl.2016.09.010. PMID: 27939111
Leonard JR, Limbrick DD Jr
Neurosurg Clin N Am 2015 Oct;26(4):xiii-xiv. doi: 10.1016/j.nec.2015.07.002. PMID: 26408069

Therapy

Zisakis A, Sun R, Pepper J, Tsermoulas G
Adv Tech Stand Neurosurg 2023;46:149-173. doi: 10.1007/978-3-031-28202-7_8. PMID: 37318574
Saletti V, Farinotti M, Peretta P, Massimi L, Ciaramitaro P, Motta S, Solari A, Valentini LG
Neurol Sci 2021 Dec;42(12):4965-4995. Epub 2021 Sep 30 doi: 10.1007/s10072-021-05565-9. PMID: 34591209
Han Y, Chen M, Wang H
Childs Nerv Syst 2021 Jun;37(6):1831-1836. Epub 2021 Jan 6 doi: 10.1007/s00381-020-05034-2. PMID: 33409618
Dewan MC, Wellons JC
J Neurosurg Pediatr 2019 Aug 1;24(2):105-114. doi: 10.3171/2019.4.PEDS18383. PMID: 31370010
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article

Prognosis

Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
Petracek LS, Rowe PC
Neurosurg Clin N Am 2023 Jan;34(1):43-54. doi: 10.1016/j.nec.2022.09.002. PMID: 36424063
McClugage SG, Oakes WJ
J Neurosurg Pediatr 2019 Sep 1;24(3):217-226. doi: 10.3171/2019.5.PEDS18382. PMID: 31473667
Thompson DNP
Childs Nerv Syst 2019 Oct;35(10):1653-1664. Epub 2019 Jul 10 doi: 10.1007/s00381-019-04296-9. PMID: 31292759
Langridge B, Phillips E, Choi D
World Neurosurg 2017 Aug;104:213-219. Epub 2017 Apr 21 doi: 10.1016/j.wneu.2017.04.082. PMID: 28435116

Clinical prediction guides

He Y, Zhang M, Qin X, Huang C, Liu P, Tao Y, Wang Y, Guo L, Bao M, Li H, Mao Z, Li N, He Z, Wu B
Neurosurg Rev 2023 Nov 29;46(1):316. doi: 10.1007/s10143-023-02207-w. PMID: 38030943
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT
Trends Mol Med 2023 Dec;29(12):1059-1075. Epub 2023 Oct 4 doi: 10.1016/j.molmed.2023.08.013. PMID: 37802664
Han Y, Chen M, Wang H
Childs Nerv Syst 2021 Jun;37(6):1831-1836. Epub 2021 Jan 6 doi: 10.1007/s00381-020-05034-2. PMID: 33409618
Langridge B, Phillips E, Choi D
World Neurosurg 2017 Aug;104:213-219. Epub 2017 Apr 21 doi: 10.1016/j.wneu.2017.04.082. PMID: 28435116
Yarbrough CK, Greenberg JK, Park TS
Neurosurg Clin N Am 2015 Oct;26(4):533-41. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.008. PMID: 26408063

Recent systematic reviews

Pattisapu JV, Ackerman LL, Infinger LK, Maher CO, Quinsey C, Rocque BG, Silberstein H, Jackson EM, Jernigan S, Niazi T, Qaiser R, Raskin JS, Vachhrajani S, Bauer DF
Neurosurgery 2023 Oct 1;93(4):731-735. Epub 2023 Aug 30 doi: 10.1227/neu.0000000000002635. PMID: 37646504
Saletti V, Farinotti M, Peretta P, Massimi L, Ciaramitaro P, Motta S, Solari A, Valentini LG
Neurol Sci 2021 Dec;42(12):4965-4995. Epub 2021 Sep 30 doi: 10.1007/s10072-021-05565-9. PMID: 34591209
Langridge B, Phillips E, Choi D
World Neurosurg 2017 Aug;104:213-219. Epub 2017 Apr 21 doi: 10.1016/j.wneu.2017.04.082. PMID: 28435116
Wang J, Alotaibi NM, Samuel N, Ibrahim GM, Fallah A, Cusimano MD
World Neurosurg 2017 Feb;98:800-808.e2. Epub 2016 Nov 25 doi: 10.1016/j.wneu.2016.11.080. PMID: 27894943
Zhao JL, Li MH, Wang CL, Meng W
World Neurosurg 2016 Apr;88:7-14. Epub 2015 Dec 28 doi: 10.1016/j.wneu.2015.11.087. PMID: 26732952

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...