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Miller Dieker syndrome(MDLS)

MedGen UID:
78538
Concept ID:
C0265219
Disease or Syndrome
Synonyms: Lissencephaly Syndrome, Miller-Dieker; MDLS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Contiguous gene syndrome
MedGen UID:
383697
Concept ID:
C1855496
Disease or Syndrome
Source: HPO
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Lissencephaly syndrome (204036008); Miller Dieker syndrome (253148005); Miller-Dieker syndrome (253148005); Miller-Dieker lissencephaly syndrome (253148005)
 
Cytogenetic location: 17p13.3
OMIM®: 247200
Orphanet: ORPHA531

Definition

LIS1-associated lissencephaly includes Miller-Dieker syndrome (MDS), isolated lissencephaly sequence (ILS), and (rarely) subcortical band heterotopia (SBH). Lissencephaly and SBH are cortical malformations caused by deficient neuronal migration during embryogenesis. Lissencephaly refers to a "smooth brain" with absent gyri (agyria) or abnormally wide gyri (pachygyria). SBH refers to a band of heterotopic gray matter located just beneath the cortex and separated from it by a thin zone of normal white matter. MDS is characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. ILS is characterized by lissencephaly and its direct sequelae: developmental delay, intellectual disability, and seizures. [from GTR]

Additional descriptions

From GeneReviews
LIS1-associated lissencephaly includes Miller-Dieker syndrome (MDS), isolated lissencephaly sequence (ILS), and (rarely) subcortical band heterotopia (SBH). Lissencephaly and SBH are cortical malformations caused by deficient neuronal migration during embryogenesis. Lissencephaly refers to a "smooth brain" with absent gyri (agyria) or abnormally wide gyri (pachygyria). SBH refers to a band of heterotopic gray matter located just beneath the cortex and separated from it by a thin zone of normal white matter. MDS is characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. ILS is characterized by lissencephaly and its direct sequelae: developmental delay, intellectual disability, and seizures.  https://www.ncbi.nlm.nih.gov/books/NBK5189
From OMIM
Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by Schinzel, 1988). Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri. Deletion of or mutation in the LIS1 gene (PAFAH1B1; 601545) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see 607432). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. Toyo-oka et al. (2003) presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; 605066).  http://www.omim.org/entry/247200
From GHR
Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain malformations cause severe intellectual disability, developmental delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Seizures usually begin before six months of age, and some occur from birth. Typically, the smoother the surface of the brain is, the more severe the associated symptoms are.In addition to lissencephaly, people with Miller-Dieker syndrome tend to have distinctive facial features that include a prominent forehead; a sunken appearance in the middle of the face (midface hypoplasia); a small, upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip. Some individuals with this condition also grow more slowly than other children. Rarely, affected individuals will have heart or kidney malformations or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. People with Miller-Dieker syndrome may also have life-threatening breathing problems. Most individuals with this condition do not survive beyond childhood.  https://ghr.nlm.nih.gov/condition/miller-dieker-syndrome

Clinical features

Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Pelvic kidney
MedGen UID:
67446
Concept ID:
C0221209
Congenital Abnormality
A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital abnormality characterized by more than 5 digits on a hand or foot.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Deep palmar crease
MedGen UID:
387849
Concept ID:
C1857539
Finding
Excessively deep creases of the palm.
Heart, malformation of
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
An anatomical defect of a gross structure of the heart.
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Intrauterine growth retardation
MedGen UID:
473406
Concept ID:
C1386048
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Duodenal atresia
MedGen UID:
75602
Concept ID:
C0266174
Congenital Abnormality
A congenital malformation characterized by the absence of a normal opening in a part of the duodenum.
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Heterotopia
MedGen UID:
40280
Concept ID:
C0008519
Pathologic Function
A mass of histologically normal tissue present in an abnormal location.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Lissencephaly
MedGen UID:
78604
Concept ID:
C0266463
Finding
A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure.
Macrogyria
MedGen UID:
120579
Concept ID:
C0266483
Congenital Abnormality
A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Cavum septum pellucidum
MedGen UID:
327087
Concept ID:
C1840380
Finding
If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
Progressive spastic paraplegia
MedGen UID:
344505
Concept ID:
C1855483
Finding
Midline brain calcifications
MedGen UID:
383696
Concept ID:
C1855487
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Infantile spasms
MedGen UID:
854616
Concept ID:
C3887898
Disease or Syndrome
Infantile spasms represent a subset of \
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Recurrent aspiration pneumonia
MedGen UID:
152887
Concept ID:
C0747651
Disease or Syndrome
Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Pelvic kidney
MedGen UID:
67446
Concept ID:
C0221209
Congenital Abnormality
A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Progressive spastic paraplegia
MedGen UID:
344505
Concept ID:
C1855483
Finding
Infantile muscular hypotonia
MedGen UID:
395993
Concept ID:
C1860834
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Recurrent aspiration pneumonia
MedGen UID:
152887
Concept ID:
C0747651
Disease or Syndrome
Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital abnormality characterized by more than 5 digits on a hand or foot.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Midline brain calcifications
MedGen UID:
383696
Concept ID:
C1855487
Finding
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Thick upper lip vermilion
MedGen UID:
339521
Concept ID:
C1846423
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Deep palmar crease
MedGen UID:
387849
Concept ID:
C1857539
Finding
Excessively deep creases of the palm.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Pathologic Function
An abnormal reduction in quantity or strength of fetal movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMiller Dieker syndrome
Follow this link to review classifications for Miller Dieker syndrome in Orphanet.

Recent clinical studies

Etiology

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
Korean J Lab Med 2011 Jan;31(1):49-53. doi: 10.3343/kjlm.2011.31.1.49. PMID: 21239872Free PMC Article
Chen SJ, Peng SS, Kuo MF, Lee WT, Liang JS
Pediatr Neurol 2006 Mar;34(3):228-30. doi: 10.1016/j.pediatrneurol.2005.06.017. PMID: 16504794
Fong KW, Ghai S, Toi A, Blaser S, Winsor EJ, Chitayat D
Ultrasound Obstet Gynecol 2004 Dec;24(7):716-23. doi: 10.1002/uog.1777. PMID: 15586369
Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH
Am J Hum Genet 2003 Apr;72(4):918-30. Epub 2003 Mar 5 doi: 10.1086/374320. PMID: 12621583Free PMC Article
Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith AC
Am J Med Genet 1999 Aug 6;85(4):369-75. PMID: 10398263

Diagnosis

Mishima T, Watari M, Iwaki Y, Nagai T, Kawamata-Nakamura M, Kobayashi Y, Fujieda S, Oikawa M, Takahashi N, Keira M, Yoshida H, Tonoki H
Congenit Anom (Kyoto) 2017 Mar;57(2):61-63. doi: 10.1111/cga.12193. PMID: 27644460
Kochuvareed Mampilly T, Tomy Mampilly G, Chandramohan N, Velayutham M, Sheth J, Sheth F, Janaki V
Fetal Pediatr Pathol 2013 Jul;32(4):308-11. Epub 2013 Jan 10 doi: 10.3109/15513815.2012.754529. PMID: 23301919
Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
Korean J Lab Med 2011 Jan;31(1):49-53. doi: 10.3343/kjlm.2011.31.1.49. PMID: 21239872Free PMC Article
Czuchlewski DR, Andrews J, Madden R, Clericuzio CL, Zhang QY
J Pediatr Hematol Oncol 2008 Nov;30(11):865-8. doi: 10.1097/MPH.0b013e31818a958a. PMID: 18989166
Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K
Pediatr Neurol 2007 Apr;36(4):258-60. doi: 10.1016/j.pediatrneurol.2006.11.015. PMID: 17437911

Therapy

Østergaard JR, Graakjær J, Brandt C, Birkebæk NH
Eur J Med Genet 2012 Jan;55(1):22-6. Epub 2011 Oct 24 doi: 10.1016/j.ejmg.2011.09.004. PMID: 22085993
Saito T, Hanai S, Takashima S, Nakagawa E, Okazaki S, Inoue T, Miyata R, Hoshino K, Akashi T, Sasaki M, Goto Y, Hayashi M, Itoh M
Cereb Cortex 2011 Mar;21(3):588-96. Epub 2010 Jul 12 doi: 10.1093/cercor/bhq125. PMID: 20624841
Munakata M, Kobayashi K, Niisato-Nezu J, Tanaka S, Kakisaka Y, Ebihara T, Ebihara S, Haginoya K, Tsuchiya S, Onuma A
Tohoku J Exp Med 2008 Apr;214(4):327-32. PMID: 18441508
Gopal VV, Roop H, Carpenter NJ
Am J Med Sci 1995 Apr;309(4):208-12. PMID: 7900742
de Rijk-van Andel JF, Arts WF, Barth PG, Loonen MC
Dev Med Child Neurol 1990 Aug;32(8):707-17. PMID: 2210085

Prognosis

Kochuvareed Mampilly T, Tomy Mampilly G, Chandramohan N, Velayutham M, Sheth J, Sheth F, Janaki V
Fetal Pediatr Pathol 2013 Jul;32(4):308-11. Epub 2013 Jan 10 doi: 10.3109/15513815.2012.754529. PMID: 23301919
Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
Korean J Lab Med 2011 Jan;31(1):49-53. doi: 10.3343/kjlm.2011.31.1.49. PMID: 21239872Free PMC Article
Czuchlewski DR, Andrews J, Madden R, Clericuzio CL, Zhang QY
J Pediatr Hematol Oncol 2008 Nov;30(11):865-8. doi: 10.1097/MPH.0b013e31818a958a. PMID: 18989166
Chen SJ, Peng SS, Kuo MF, Lee WT, Liang JS
Pediatr Neurol 2006 Mar;34(3):228-30. doi: 10.1016/j.pediatrneurol.2005.06.017. PMID: 16504794
Chong SS, Tanigami A, Roschke AV, Ledbetter DH
Genome Res 1996 Aug;6(8):735-41. PMID: 8858348

Clinical prediction guides

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
Korean J Lab Med 2011 Jan;31(1):49-53. doi: 10.3343/kjlm.2011.31.1.49. PMID: 21239872Free PMC Article
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