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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: 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.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Pallister-Hall syndrome (56677004)
 
Gene (location): GLI3 (7p14.1)
OMIM®: 146510
Orphanet: ORPHA672

Definition

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 GTR]

Additional descriptions

From GeneReviews
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.  https://www.ncbi.nlm.nih.gov/books/NBK1465
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
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
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).
Small adrenal glands
MedGen UID:
83342
Concept ID:
C0342491
Finding
Developmental hypoplasia of the adrenal glands.
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).
Decreased circulating cortisol level
MedGen UID:
322961
Concept ID:
C1836623
Finding
Abnormally reduced concentration of cortisol in the blood.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
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.
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
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).
Renal cyst
MedGen UID:
7215
Concept ID:
C0022679
Disease or Syndrome
A fluid filled sac in the kidney.
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
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 dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
A developmental defect characterized by absence or poor development of proximal renal tubules.
Distal urethral duplication
MedGen UID:
870199
Concept ID:
C4024634
Anatomical Abnormality
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum.
Radial head subluxation
MedGen UID:
56213
Concept ID:
C0149977
Injury or Poisoning
Partial dislocation of the head of the radius.
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
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
Mesoaxial hand polydactyly
MedGen UID:
866528
Concept ID:
C4020820
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.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Preductal coarctation of the aorta
MedGen UID:
539555
Concept ID:
C0265878
Congenital Abnormality
Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.
Midline facial capillary hemangioma
MedGen UID:
333532
Concept ID:
C1840310
Finding
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
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.
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.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external 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).
Atresia of the external auditory canal
MedGen UID:
400938
Concept ID:
C1866190
Anatomical Abnormality
Absence or failure to form of the external auditory canal.
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.
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.
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.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
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.
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.
Lung segmentation defects
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
A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight.
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).
Renal cyst
MedGen UID:
7215
Concept ID:
C0022679
Disease or Syndrome
A fluid filled sac in the kidney.
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
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 dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
A developmental defect characterized by absence or poor development of proximal renal tubules.
Distal urethral duplication
MedGen UID:
870199
Concept ID:
C4024634
Anatomical Abnormality
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum.
Radial head subluxation
MedGen UID:
56213
Concept ID:
C0149977
Injury or Poisoning
Partial dislocation of the head of the radius.
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 \
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
A congenital abnormality characterized by incomplete development of one side of the vertebrae (arch and hemicentrum), resulting in spinal malformation.
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.
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
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
Mesoaxial hand polydactyly
MedGen UID:
866528
Concept ID:
C4020820
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.
Microglossia
MedGen UID:
10029
Concept ID:
C0025988
Congenital Abnormality
Decreased length and width of the tongue.
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.
Natal tooth
MedGen UID:
10268
Concept ID:
C0027443
Finding
Erupted tooth or teeth at birth.
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
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.
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Disease or Syndrome
The presence of developmental dysplasia of the nail.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
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).
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).
Decreased circulating cortisol level
MedGen UID:
322961
Concept ID:
C1836623
Finding
Abnormally reduced concentration of cortisol in the blood.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
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.

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

Tsurumi H, Ito M, Ishikura K, Hataya H, Ikeda M, Honda M, Nishimura G
Pediatr Int 2010 Oct;52(5):723-8. doi: 10.1111/j.1442-200X.2010.03096.x. PMID: 20149127
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

Diagnosis

Hall JG
Gene 2016 Sep 10;589(2):100-3. Epub 2016 Jan 5 doi: 10.1016/j.gene.2016.01.003. PMID: 26768579
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

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
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Prognosis

Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH
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Clinical prediction guides

Blake J, Hu D, Cain JE, Rosenblum ND
Hum Mol Genet 2016 Feb 1;25(3):437-47. Epub 2015 Nov 24 doi: 10.1093/hmg/ddv483. PMID: 26604140Free PMC Article
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Recent systematic reviews

Hofmann AD, Puri P
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