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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; Wiedemann-Beckwith Syndrome (WBS)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Beckwith's syndrome (81780002); Beckwith-Wiedemann syndrome (81780002); Wiedemann-Beckwith syndrome (81780002); Exomphalos-macroglossia-gigantism syndrome (81780002)
 
Genes: H19; NSD1; KCNQ1OT1; KCNQ1; IGF2; CDKN1C
Cytogenetic locations: 11p15.4; 11p15.5; 11p15.5-15.4; 5q35.3
OMIM®: 130650
Orphanet: ORPHA116

Disease characteristics

Excerpted from the GeneReview: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly). 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 GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Cheryl Shuman  |  J Bruce Beckwith  |  Adam C Smith, et. al.   view full author information

Additional descriptions

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).  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 continue to grow and gain weight at an unusual rate 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 may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern is known as hemihyperplasia. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Many people 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 navel. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Most 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 rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, 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. About one in five infants with Beckwith-Wiedemann syndrome dies early in life from complications related to the disorder. Older children and adults are much less likely to have serious medical problems associated with the condition.  http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome

Clinical features

Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
Hemihypertrophy
MedGen UID:
372094
Concept ID:
C1835632
Finding
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Asymmetric growth
MedGen UID:
451881
Concept ID:
CN117448
Finding
A growth pattern that displays an abnormal difference between the left and the right side.
Gonadoblastoma
MedGen UID:
504367
Concept ID:
CN000146
Finding
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Nephroblastoma (Wilms tumor)
MedGen UID:
505324
Concept ID:
CN002424
Finding
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Hepatoblastoma
MedGen UID:
505387
Concept ID:
CN002608
Finding
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.
Neoplasm of the liver
MedGen UID:
425116
Concept ID:
CN002619
Finding
A tumor (abnormal growth of tissue) of the liver.
Neuroblastoma
MedGen UID:
505432
Concept ID:
CN002717
Finding
Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
Adrenocortical carcinoma
MedGen UID:
505968
Concept ID:
CN005871
Finding
A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.
Sarcoma
MedGen UID:
506452
Concept ID:
CN117138
Finding
The presence of a sarcoma.
Enlarged kidneys
MedGen UID:
108156
Concept ID:
C0542518
Finding
Overgrowth of external genitalia
MedGen UID:
377097
Concept ID:
C1851722
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Polycystic kidney dysplasia
MedGen UID:
427793
Concept ID:
CN000111
Finding
The presence of multiple cysts in both kidneys.
Gonadoblastoma
MedGen UID:
504367
Concept ID:
CN000146
Finding
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Nephroblastoma (Wilms tumor)
MedGen UID:
505324
Concept ID:
CN002424
Finding
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Urogenital fistula
MedGen UID:
506491
Concept ID:
CN117482
Finding
The presence of a fistula affecting the genitourinary system.
Large fontanelles
MedGen UID:
105329
Concept ID:
C0456132
Finding
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Prominent occiput
MedGen UID:
381255
Concept ID:
C1853737
Finding
Coarse facial features
MedGen UID:
381459
Concept ID:
C1854600
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Cleft palate
MedGen UID:
776579
Concept ID:
C2240378
Finding
Wide mouth
MedGen UID:
504368
Concept ID:
CN000150
Finding
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Abnormality of the tongue
MedGen UID:
446339
Concept ID:
CN000153
Finding
Any abnormality of the tongue.
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Abnormality of the helix
MedGen UID:
344782
Concept ID:
C1856660
Finding
Abnormality of periauricular region
MedGen UID:
446355
Concept ID:
CN000358
Finding
Abnormality of the ear
MedGen UID:
427827
Concept ID:
CN000560
Finding
An abnormality of the ear.
Anterior creases of earlobe
MedGen UID:
506335
Concept ID:
CN008746
Finding
Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Neuroblastoma
MedGen UID:
505432
Concept ID:
CN002717
Finding
Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
Adrenocortical cytomegaly
MedGen UID:
342072
Concept ID:
C1851720
Finding
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Abnormality of the adrenal glands
MedGen UID:
427841
Concept ID:
CN000780
Finding
Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Adrenocortical carcinoma
MedGen UID:
505968
Concept ID:
CN005871
Finding
A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.
Large fontanelles
MedGen UID:
105329
Concept ID:
C0456132
Finding
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Prominent occiput
MedGen UID:
381255
Concept ID:
C1853737
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Accelerated skeletal maturation
MedGen UID:
428158
Concept ID:
CN004973
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.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Pancreatic hyperplasia
MedGen UID:
338770
Concept ID:
C1851733
Finding
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Diastasis recti
MedGen UID:
504851
Concept ID:
CN001406
Finding
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Exocrine pancreatic insufficiency
MedGen UID:
504939
Concept ID:
CN001582
Finding
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Hepatoblastoma
MedGen UID:
505387
Concept ID:
CN002608
Finding
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.
Neoplasm of the liver
MedGen UID:
425116
Concept ID:
CN002619
Finding
A tumor (abnormal growth of tissue) of the liver.
Cutis laxa
MedGen UID:
504669
Concept ID:
CN000911
Finding
Wrinkled, redundant, inelastic and sagging skin.
Melanocytic nevus
MedGen UID:
504679
Concept ID:
CN000931
Finding
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
hypertrophy or enlargement of the heart.
Cardiomyopathy
MedGen UID:
504883
Concept ID:
CN001491
Finding
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Hypoglycemia
MedGen UID:
505016
Concept ID:
CN001757
Finding
A decreased concentration of glucose in the blood.
Neonatal hypoglycemia
MedGen UID:
505047
Concept ID:
CN001809
Finding
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
A disorder characterized by cessation of breathing.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Hemihypertrophy
MedGen UID:
372094
Concept ID:
C1835632
Finding

Professional guidelines

PubMed

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

Hikita R, Kobayashi Y, Tsuji M, Kawamoto T, Moriyama K
Am J Orthod Dentofacial Orthop 2014 May;145(5):672-84. doi: 10.1016/j.ajodo.2013.08.019. PMID: 24785932
Baiocchi M, Yousuf FS, Hussain K
Pediatrics 2014 Apr;133(4):e1082-6. Epub 2014 Mar 17 doi: 10.1542/peds.2013-1596. [Epub ahead of print] PMID: 24639276
Laje P, Palladino AA, Bhatti TR, States LJ, Stanley CA, Adzick NS
J Pediatr Surg 2013 Dec;48(12):2511-6. doi: 10.1016/j.jpedsurg.2013.05.016. PMID: 24314195Free PMC Article
Anzai Y, Koshida S, Yanagi T, Johnin K, Takeuchi Y
Pediatr Int 2013 Oct;55(5):658-61. doi: 10.1111/ped.12096. PMID: 24134758
Keren B, Chantot-Bastaraud S, Brioude F, Mach C, Fonteneau E, Azzi S, Depienne C, Brice A, Netchine I, Le Bouc Y, Siffroi JP, Rossignol S
Eur J Med Genet 2013 Oct;56(10):546-50. Epub 2013 Jul 24 doi: 10.1016/j.ejmg.2013.06.005. [Epub ahead of print] PMID: 23892181

Diagnosis

Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R
Hum Genet 2014 Mar;133(3):321-30. Epub 2013 Oct 24 doi: 10.1007/s00439-013-1379-z. [Epub ahead of print] PMID: 24154661
Laje P, Palladino AA, Bhatti TR, States LJ, Stanley CA, Adzick NS
J Pediatr Surg 2013 Dec;48(12):2511-6. doi: 10.1016/j.jpedsurg.2013.05.016. PMID: 24314195Free PMC Article
Anzai Y, Koshida S, Yanagi T, Johnin K, Takeuchi Y
Pediatr Int 2013 Oct;55(5):658-61. doi: 10.1111/ped.12096. PMID: 24134758
Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A, Richiardi L, Larizza L, Silengo MC, Riccio A, Ferrero GB
Am J Med Genet A 2013 Oct;161A(10):2481-6. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36080. [Epub ahead of print] PMID: 23918458
Keren B, Chantot-Bastaraud S, Brioude F, Mach C, Fonteneau E, Azzi S, Depienne C, Brice A, Netchine I, Le Bouc Y, Siffroi JP, Rossignol S
Eur J Med Genet 2013 Oct;56(10):546-50. Epub 2013 Jul 24 doi: 10.1016/j.ejmg.2013.06.005. [Epub ahead of print] PMID: 23892181

Therapy

Trobaugh-Lotrario AD, Venkatramani R, Feusner JH
J Pediatr Hematol Oncol 2014 Jul;36(5):369-73. doi: 10.1097/MPH.0000000000000129. PMID: 24608075
Fakhar F, Memon S, Deitz D, Abramowitz R, Alpert DR
BMJ Case Rep 2013 Oct 23;2013 doi: 10.1136/bcr-2013-201084. PMID: 24154999
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 [Epub ahead of print] PMID: 23197114
Heggie AA, Vujcich NJ, Portnof JE, Morgan AT
Int J Oral Maxillofac Surg 2013 Feb;42(2):185-91. Epub 2012 Oct 4 doi: 10.1016/j.ijom.2012.09.003. [Epub ahead of print] PMID: 23041202
Van Lierde K, Galiwango G, Hodges A, Bettens K, Luyten A, Vermeersch H
Folia Phoniatr Logop 2012;64(2):55-63. Epub 2011 Nov 16 doi: 10.1159/000329569. [Epub ahead of print] PMID: 22095257

Prognosis

Hikita R, Kobayashi Y, Tsuji M, Kawamoto T, Moriyama K
Am J Orthod Dentofacial Orthop 2014 May;145(5):672-84. doi: 10.1016/j.ajodo.2013.08.019. PMID: 24785932
Baiocchi M, Yousuf FS, Hussain K
Pediatrics 2014 Apr;133(4):e1082-6. Epub 2014 Mar 17 doi: 10.1542/peds.2013-1596. [Epub ahead of print] PMID: 24639276
Trobaugh-Lotrario AD, Venkatramani R, Feusner JH
J Pediatr Hematol Oncol 2014 Jul;36(5):369-73. doi: 10.1097/MPH.0000000000000129. PMID: 24608075
Anzai Y, Koshida S, Yanagi T, Johnin K, Takeuchi Y
Pediatr Int 2013 Oct;55(5):658-61. doi: 10.1111/ped.12096. PMID: 24134758
Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R
Am J Med Genet A 2012 Jun;158A(6):1388-94. Epub 2012 May 14 doi: 10.1002/ajmg.a.35358. [Epub ahead of print] PMID: 22585446

Clinical prediction guides

Hikita R, Kobayashi Y, Tsuji M, Kawamoto T, Moriyama K
Am J Orthod Dentofacial Orthop 2014 May;145(5):672-84. doi: 10.1016/j.ajodo.2013.08.019. PMID: 24785932
Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M
Epigenetics 2013 Oct 1;8(10):1053-60. Epub 2013 Aug 5 doi: 10.4161/epi.25812. [Epub ahead of print] PMID: 23917791Free PMC Article
Lee BH, Kim GH, Oh TJ, Kim JH, Lee JJ, Choi SH, Lee JY, Kim JM, Choi IH, Kim YM, Choi JH, Yoo HW
J Hum Genet 2013 Sep;58(9):604-10. Epub 2013 Jun 27 doi: 10.1038/jhg.2013.67. [Epub ahead of print] PMID: 23803580
Kadouch DJ, Maas SM, Dubois L, van der Horst CM
Int J Oral Maxillofac Surg 2012 Mar;41(3):300-8. Epub 2011 Nov 21 doi: 10.1016/j.ijom.2011.10.021. [Epub ahead of print] PMID: 22104000
Mussa A, Peruzzi L, Chiesa N, De Crescenzo A, Russo S, Melis D, Tarani L, Baldassarre G, Larizza L, Riccio A, Silengo M, Ferrero GB
Pediatr Nephrol 2012 Mar;27(3):397-406. Epub 2011 Oct 21 doi: 10.1007/s00467-011-2009-4. [Epub ahead of print] PMID: 22015620

Recent systematic reviews

Dias RP, Maher ER
Epigenomics 2013 Jun;5(3):331-40. doi: 10.2217/epi.13.28. PMID: 23750647
Choufani S, Shuman C, Weksberg R
Am J Med Genet C Semin Med Genet 2013 May;163C(2):131-40. Epub 2013 Apr 16 doi: 10.1002/ajmg.c.31363. [Epub ahead of print] PMID: 23592339
Nayeri UA, West AB, Grossetta Nardini HK, Copel JA, Sfakianaki AK
Ultrasound Obstet Gynecol 2013 Apr;41(4):366-74. doi: 10.1002/uog.12359. PMID: 23239538
Hettinger PC, Denny AD
Ann Plast Surg 2011 Sep;67(3):240-4. doi: 10.1097/SAP.0b013e3181f77a83. PMID: 21407066
Rump P, Zeegers MP, van Essen AJ
Am J Med Genet A 2005 Jul 1;136(1):95-104. doi: 10.1002/ajmg.a.30729. PMID: 15887271

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