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Beckwith-Wiedemann syndrome(BWS)

MedGen UID:
2562
Concept ID:
C0004903
Disease or Syndrome
Synonyms: BWS; EMG Syndrome; Exomphalos macroglossia gigantism syndrome
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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Beckwith's syndrome (81780002); Beckwith-Wiedemann syndrome (81780002); Wiedemann-Beckwith syndrome (81780002); Exomphalos-macroglossia-gigantism syndrome (81780002)
 
Genes (locations): CDKN1C (11p15.4); H19 (11p15.5); H19-ICR (11p15.5); IGF2 (11p15.5); KCNQ1 (11p15.5-15.4); KCNQ1OT1 (11p15.5); NSD1 (5q35.3)
OMIM®: 130650

Definition

Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. [from GTR]

Additional descriptions

From GeneReviews
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.  https://www.ncbi.nlm.nih.gov/books/NBK1394
From OMIM
Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010). Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.  http://www.omim.org/entry/130650
From GHR
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities.Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood.Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.  https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome

Clinical features

Adrenocortical carcinoma
MedGen UID:
104917
Concept ID:
C0206686
Neoplastic Process
A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.
Adrenocortical cytomegaly
MedGen UID:
342072
Concept ID:
C1851720
Finding
The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
Hepatoblastoma
MedGen UID:
61644
Concept ID:
C0206624
Neoplastic Process
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
Adrenocortical carcinoma
MedGen UID:
104917
Concept ID:
C0206686
Neoplastic Process
A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.
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).
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Overgrowth of external genitalia
MedGen UID:
377097
Concept ID:
C1851722
Finding
Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Abnormal enlargement of the heart.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it.
Fetal overgrowth
MedGen UID:
461631
Concept ID:
C3150281
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Hepatoblastoma
MedGen UID:
61644
Concept ID:
C0206624
Neoplastic Process
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
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).
Pancreatic hyperplasia
MedGen UID:
338770
Concept ID:
C1851733
Finding
Hyperplasia of the pancreas.
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
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).
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Overgrowth of external genitalia
MedGen UID:
377097
Concept ID:
C1851722
Finding
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Neonatal hypoglycemia
MedGen UID:
57646
Concept ID:
C0158986
Finding
Blood glucose concentration below the lower limit of established reference ranges in a newborn.(NICHD)
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Wide cranial sutures
MedGen UID:
140825
Concept ID:
C0410935
Finding
An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Prominent occiput
MedGen UID:
381255
Concept ID:
C1853737
Finding
Increased convexity of the occiput (posterior part of the skull).
Fetal overgrowth
MedGen UID:
461631
Concept ID:
C3150281
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Wide cranial sutures
MedGen UID:
140825
Concept ID:
C0410935
Finding
An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Prominent occiput
MedGen UID:
381255
Concept ID:
C1853737
Finding
Increased convexity of the occiput (posterior part of the skull).
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Fetal overgrowth
MedGen UID:
461631
Concept ID:
C3150281
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
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).
Adrenocortical cytomegaly
MedGen UID:
342072
Concept ID:
C1851720
Finding
The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeckwith-Wiedemann syndrome
Follow this link to review classifications for Beckwith-Wiedemann syndrome in Orphanet.

Professional guidelines

PubMed

Mussa A, Di Candia S, Russo S, Catania S, De Pellegrin M, Di Luzio L, Ferrari M, Tortora C, Meazzini MC, Brusati R, Milani D, Zampino G, Montirosso R, Riccio A, Selicorni A, Cocchi G, Ferrero GB
Eur J Med Genet 2016 Jan;59(1):52-64. Epub 2015 Nov 22 doi: 10.1016/j.ejmg.2015.11.008. PMID: 26592461
Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB
Genet Med 2001 May-Jun;3(3):206-11. doi: 10.109700125817-200105000-00011. PMID: 11388763Free PMC Article

Recent clinical studies

Etiology

Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R
Eur J Hum Genet 2017 Sep;25(9):1031-1039. Epub 2017 Jul 12 doi: 10.1038/ejhg.2017.102. PMID: 28699632Free PMC Article
MacFarland SP, Mostoufi-Moab S, Zelley K, Mattei PA, States LJ, Bhatti TR, Duffy KA, Brodeur GM, Kalish JM
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 9 doi: 10.1002/pbc.26432. PMID: 28066990
Khoshnam N, Robinson H, Clay MR, Schaffer LR, Gillespie SE, Shehata BM
Eur J Med Genet 2017 Feb;60(2):136-139. Epub 2016 Dec 10 doi: 10.1016/j.ejmg.2016.12.001. PMID: 27965001
Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C
Pediatr Blood Cancer 2017 Mar;64(3) Epub 2016 Sep 21 doi: 10.1002/pbc.26241. PMID: 27650505
Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium., Monk D, Lapunzina P
Am J Med Genet A 2016 Oct;170(10):2740-9. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37852. PMID: 27480579

Diagnosis

Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R
Eur J Hum Genet 2017 Sep;25(9):1031-1039. Epub 2017 Jul 12 doi: 10.1038/ejhg.2017.102. PMID: 28699632Free PMC Article
MacFarland SP, Mostoufi-Moab S, Zelley K, Mattei PA, States LJ, Bhatti TR, Duffy KA, Brodeur GM, Kalish JM
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 9 doi: 10.1002/pbc.26432. PMID: 28066990
Chen KJ, Liu YM, Li CH, Chang YL, Chang SD
Taiwan J Obstet Gynecol 2016 Dec;55(6):877-880. doi: 10.1016/j.tjog.2016.05.012. PMID: 28040139
Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium., Monk D, Lapunzina P
Am J Med Genet A 2016 Oct;170(10):2740-9. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37852. PMID: 27480579
Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP
Mol Genet Metab 2016 Sep;119(1-2):8-13. Epub 2016 Jul 12 doi: 10.1016/j.ymgme.2016.07.003. PMID: 27436784

Therapy

Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, Carli D, Peris C, Riccio A, Ferrero GB
Pediatrics 2017 Jul;140(1) Epub 2017 Jun 20 doi: 10.1542/peds.2016-4311. PMID: 28634246
Maas SM, Kadouch DJ, Masselink AC, Van Der Horst CM
J Craniomaxillofac Surg 2016 Jun;44(6):659-63. Epub 2016 Feb 27 doi: 10.1016/j.jcms.2016.02.010. PMID: 27052941
Güemes M, Shah P, Roženková K, Gilbert C, Morgan K, Hussain K
Horm Res Paediatr 2016;85(5):353-7. Epub 2016 Feb 11 doi: 10.1159/000443398. PMID: 26863215
Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K
Genet Test Mol Biomarkers 2015 Dec;19(12):684-91. Epub 2015 Oct 27 doi: 10.1089/gtmb.2015.0163. PMID: 26505556Free PMC Article
Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H
Endocr J 2013;60(4):403-8. Epub 2012 Nov 30 PMID: 23197114

Prognosis

Luk HM
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):89-95. doi: 10.1515/jpem-2016-0094. PMID: 27977403
Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C
Pediatr Blood Cancer 2017 Mar;64(3) Epub 2016 Sep 21 doi: 10.1002/pbc.26241. PMID: 27650505
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T
Eur J Hum Genet 2016 Oct;24(10):1377-87. Epub 2016 May 11 doi: 10.1038/ejhg.2016.45. PMID: 27165005Free PMC Article
Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K
Am J Med Genet A 2016 Mar;170(3):559-64. Epub 2015 Nov 17 doi: 10.1002/ajmg.a.37471. PMID: 26572961Free PMC Article
Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA
J Med Genet 2016 Jan;53(1):53-61. Epub 2015 Nov 6 doi: 10.1136/jmedgenet-2015-103394. PMID: 26545876Free PMC Article

Clinical prediction guides

Luk HM
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):89-95. doi: 10.1515/jpem-2016-0094. PMID: 27977403
Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP
Mol Genet Metab 2016 Sep;119(1-2):8-13. Epub 2016 Jul 12 doi: 10.1016/j.ymgme.2016.07.003. PMID: 27436784
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T
Eur J Hum Genet 2016 Oct;24(10):1377-87. Epub 2016 May 11 doi: 10.1038/ejhg.2016.45. PMID: 27165005Free PMC Article
Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB
Clin Genet 2016 Jul;90(1):21-7. Epub 2016 Mar 15 doi: 10.1111/cge.12759. PMID: 26857110
Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K
Genet Test Mol Biomarkers 2015 Dec;19(12):684-91. Epub 2015 Oct 27 doi: 10.1089/gtmb.2015.0163. PMID: 26505556Free PMC Article

Recent systematic reviews

MacFarland SP, Mostoufi-Moab S, Zelley K, Mattei PA, States LJ, Bhatti TR, Duffy KA, Brodeur GM, Kalish JM
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 9 doi: 10.1002/pbc.26432. PMID: 28066990
Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JH, Maher ER, Hennekam RC
Am J Med Genet A 2016 Sep;170(9):2248-60. Epub 2016 Jul 15 doi: 10.1002/ajmg.a.37801. PMID: 27419809
Mussa A, Molinatto C, Baldassarre G, Riberi E, Russo S, Larizza L, Riccio A, Ferrero GB
J Pediatr 2016 Sep;176:142-149.e1. Epub 2016 Jun 29 doi: 10.1016/j.jpeds.2016.05.038. PMID: 27372391
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T
Eur J Hum Genet 2016 Oct;24(10):1377-87. Epub 2016 May 11 doi: 10.1038/ejhg.2016.45. PMID: 27165005Free PMC Article
Mussa A, Di Candia S, Russo S, Catania S, De Pellegrin M, Di Luzio L, Ferrari M, Tortora C, Meazzini MC, Brusati R, Milani D, Zampino G, Montirosso R, Riccio A, Selicorni A, Cocchi G, Ferrero GB
Eur J Med Genet 2016 Jan;59(1):52-64. Epub 2015 Nov 22 doi: 10.1016/j.ejmg.2015.11.008. PMID: 26592461

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