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Pallister-Hall syndrome(PHS)

MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
Synonyms: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; PHS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: OMIM, Orphanet
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).
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
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.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
SNOMED CT: Pallister-Hall syndrome (56677004)
 
Gene (location): GLI3 (7p14.1)
OMIM®: 146510
Orphanet: ORPHA672

Disease characteristics

Excerpted from the GeneReview: Pallister-Hall Syndrome
Pallister-Hall syndrome (referred to as PHS in this entry) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency. [from GeneReviews]
Authors:
Leslie G Biesecker   view full author information

Additional descriptions

From OMIM
Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).  http://www.omim.org/entry/146510
From GHR
Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any health problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.  https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome

Clinical features

Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Adrenal cortical hypofunction
MedGen UID:
589758
Concept ID:
C0405580
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Hamartoma of hypothalamus
MedGen UID:
137970
Concept ID:
C0342418
Finding
The presence of a hamartoma of the hypothalamus.
Midline facial capillary hemangioma
MedGen UID:
333532
Concept ID:
C1840310
Finding
Renal hypoplasia
MedGen UID:
57623
Concept ID:
C0156247
Finding
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Renal hypoplasia/aplasia
MedGen UID:
387822
Concept ID:
C1857453
Finding
Absence or underdevelopment of the kidney.
Distal urethral duplication
MedGen UID:
870199
Concept ID:
C4024634
Anatomical Abnormality
Ectopic kidney
MedGen UID:
504334
Concept ID:
CN000086
Finding
A developmental defect in which a kidney is located in an abnormal anatomic position.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Distal shortening of limbs
MedGen UID:
327072
Concept ID:
C1840307
Finding
Short 4th metacarpal
MedGen UID:
327074
Concept ID:
C1840309
Finding
Short fourth metacarpal bone.
Y-shaped metacarpals
MedGen UID:
348341
Concept ID:
C1861373
Finding
Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Finding
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
Central polydactyly (hands)
MedGen UID:
866528
Concept ID:
C4020820
Anatomical Abnormality
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
Mesoaxial foot polydactyly
MedGen UID:
866976
Concept ID:
C4021333
Congenital Abnormality
The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Midline facial capillary hemangioma
MedGen UID:
333532
Concept ID:
C1840310
Finding
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Preductal coarctation of the aorta
MedGen UID:
892308
Concept ID:
CN004564
Finding
Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Atretic auditory canal
MedGen UID:
346507
Concept ID:
C1857079
Disease or Syndrome
Absence or failure to form of the external auditory canal.
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.
Holoprosencephaly sequence
MedGen UID:
38214
Concept ID:
C0079541
Congenital Abnormality
Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. Mildly manifesting individuals without appreciable brain anomalies on conventional neuroimaging may be described as having “microform” HPE.
Behavioral abnormality
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Conduct that is unusual for the individual.
Panhypopituitarism
MedGen UID:
69171
Concept ID:
C0242343
Disease or Syndrome
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
Hamartoma of hypothalamus
MedGen UID:
137970
Concept ID:
C0342418
Finding
The presence of a hamartoma of the hypothalamus.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Bifid epiglottis
MedGen UID:
137932
Concept ID:
C0339864
Congenital Abnormality
A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.
Abnormal lung lobation
MedGen UID:
195782
Concept ID:
C0685695
Congenital Abnormality
Defects in the formation of pulmonary lobules.
Hypoplasia of the epiglottis
MedGen UID:
235600
Concept ID:
C1396772
Congenital Abnormality
Hypoplasia of the epiglottis.
Laryngeal cleft
MedGen UID:
327075
Concept ID:
C1840311
Congenital Abnormality
Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Distal shortening of limbs
MedGen UID:
327072
Concept ID:
C1840307
Finding
Short 4th metacarpal
MedGen UID:
327074
Concept ID:
C1840309
Finding
Short fourth metacarpal bone.
Rib fusion
MedGen UID:
336769
Concept ID:
C1844749
Finding
Complete or partial merging of adjacent ribs.
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Y-shaped metacarpals
MedGen UID:
348341
Concept ID:
C1861373
Finding
Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Finding
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
Central polydactyly (hands)
MedGen UID:
866528
Concept ID:
C4020820
Anatomical Abnormality
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
Mesoaxial foot polydactyly
MedGen UID:
866976
Concept ID:
C4021333
Congenital Abnormality
The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.
Hemivertebrae
MedGen UID:
505412
Concept ID:
CN002658
Finding
Absence of one half of the vertebral body.
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
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).
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Microglossia
MedGen UID:
96115
Concept ID:
C0426492
Finding
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Midline facial capillary hemangioma
MedGen UID:
333532
Concept ID:
C1840310
Finding
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Midline facial capillary hemangioma
MedGen UID:
333532
Concept ID:
C1840310
Finding
Abnormality of the toenails
MedGen UID:
825598
Concept ID:
C3839753
Finding
An anomaly of the toenail.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Panhypopituitarism
MedGen UID:
69171
Concept ID:
C0242343
Disease or Syndrome
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
Adrenal cortical hypofunction
MedGen UID:
589758
Concept ID:
C0405580
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Thyroid agenesis
MedGen UID:
289647
Concept ID:
C1563716
Congenital Abnormality
In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).
Adrenal hypoplasia
MedGen UID:
337539
Concept ID:
C1846223
Finding
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPallister-Hall syndrome
Follow this link to review classifications for Pallister-Hall syndrome in Orphanet.

Recent clinical studies

Etiology

Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
McCann E, Fryer AE, Craigie R, Baillie C, Ba'ath ME, Selby A, Biesecker LG
Clin Dysmorphol 2006 Apr;15(2):75-9. doi: 10.1097/01.mcd.0000184972.76657.e1. PMID: 16531732
Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG
Clin Genet 2005 Jan;67(1):87-92. doi: 10.1111/j.1399-0004.2005.00370.x. PMID: 15617553
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG
Am J Med Genet A 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. PMID: 14708104
Ondrey F, Griffith A, Van Waes C, Rudy S, Peters K, McCullagh L, Biesecker LG
Am J Med Genet 2000 Sep 4;94(1):64-7. PMID: 10982485

Diagnosis

Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH
Am J Med Genet A 2015 Mar;167A(3):617-20. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36915. PMID: 25604768
Hall JG
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):414-8. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31419. PMID: 25424727
da Rocha AJ, Rosa Junior M, Arita FN, Nita DA
Neurology 2012 Aug 28;79(9):950-1. doi: 10.1212/WNL.0b013e3182676796. PMID: 22927681
Jaiman S, Nalluri H, Aziz N, Kolar G
Indian J Pathol Microbiol 2012 Jan-Mar;55(1):100-3. doi: 10.4103/0377-4929.94873. PMID: 22499313
Celedin S, Kau T, Gasser J, Kraschl R, Sinzig M
Pediatr Neurol 2010 Jan;42(1):59-60. doi: 10.1016/j.pediatrneurol.2009.08.003. PMID: 20004865

Therapy

Wakamoto H, Sumi A, Motoki T, Ohmori H
Brain Dev 2010 Sep;32(8):677-80. Epub 2009 Sep 29 doi: 10.1016/j.braindev.2009.09.003. PMID: 19793630
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A
Endocr Dev 2009;14:114-34. Epub 2009 Feb 27 doi: 10.1159/000207481. PMID: 19293579
Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B
Am J Med Genet 2001 Mar 1;99(2):128-31. PMID: 11241471
Shashi V, Clark P, Rogol AD, Wilson WG
Am J Med Genet 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107. PMID: 7645593
Encha-Razavi F, Larroche JC, Roume J, Migne G, Delezoide AL, Gonzales M, Mulliez N
Am J Med Genet 1992 Jan 1;42(1):44-50. doi: 10.1002/ajmg.1320420111. PMID: 1308364

Prognosis

Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH
Am J Med Genet A 2015 Mar;167A(3):617-20. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36915. PMID: 25604768
McPherson E, Cold C
Am J Med Genet A 2013 Oct;161A(10):2666-9. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36117. PMID: 23950073
da Rocha AJ, Rosa Junior M, Arita FN, Nita DA
Neurology 2012 Aug 28;79(9):950-1. doi: 10.1212/WNL.0b013e3182676796. PMID: 22927681
Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D
Am J Med Genet A 2005 Aug 1;136A(4):390-4. doi: 10.1002/ajmg.a.30818. PMID: 16007608
Boudreau EA, Liow K, Frattali CM, Wiggs E, Turner JT, Feuillan P, Sato S, Patsalides A, Patronas N, Biesecker LG, Theodore WH
Epilepsia 2005 Jan;46(1):42-7. doi: 10.1111/j.0013-9580.2005.68303.x. PMID: 15660767

Clinical prediction guides

Wakamoto H, Sumi A, Motoki T, Ohmori H
Brain Dev 2010 Sep;32(8):677-80. Epub 2009 Sep 29 doi: 10.1016/j.braindev.2009.09.003. PMID: 19793630
Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A
Am J Med Genet A 2009 Jun;149A(6):1108-15. doi: 10.1002/ajmg.a.32859. PMID: 19449422
Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG
Clin Genet 2005 Jan;67(1):87-92. doi: 10.1111/j.1399-0004.2005.00370.x. PMID: 15617553
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG
Am J Med Genet A 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. PMID: 14708104
Kremer S, Minotti L, Thiriaux A, Grand S, Satre V, Le Bas JF, Kahane P
Epileptic Disord 2003 Mar;5(1):27-30. PMID: 12773293

Recent systematic reviews

Hofmann AD, Puri P
Pediatr Surg Int 2013 Sep;29(9):913-7. doi: 10.1007/s00383-013-3352-2. PMID: 23948812

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