Routine prenatal ultrasound evaluation may reveal traits such as abnormal presentation close to due date, rhizomelia, diaphragmatic abnormalities such as hernias, anal defects, and heart malformations, especially ventricular septal defect, all of which are highly suggestive of this syndrome.

After birth, the first sign that draws the clinician's attention is hypotonia, that may be severe enough to interfere with respiration and deglutition. Newborns and children also have a specific phenotype, characterized by facial dimorphism: "coarse" facies, high forehead, sparse lashes and eyebrows, shallow supraorbital ridges, hypertelorism, flat nasal bridge, long philtrum [1], short neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation [2]. The hypotonia persists as the child grows older, leading to difficulties in sitting, standing, and mobility. The clinical picture is completed by intellectual disability, manifested as severe or profound mental deficiency, deafness, seizures, hypoplastic lungs and speaking difficulties. Other abnormalities such as cleft palate, supernumerary nipples, genital malformations, auditory canal stenosis, extra fingers or toes or bald scalp areas may also occur. The neurologic prognosis of these patients is grim, with severely disabled motor capabilities and incontinence [3] [4].

Diaphragmatic hernias are considered to be highly specific and are frequent [5].

These traits may not be present in all affected individuals or may be less prominent. The severity of genotype abnormalities does not correlate with the clinical features of the newborn [6]. In other cases, different sides of the body may be affected unevenly.

• Epilepsy

  RESULTS AND CONCLUSIONS: All the patients presented with epilepsy and seizures that started at a mean age of 19 months. In six cases, epilepsy started with epileptic spasms (ES) combined with focal seizures in another case. [ncbi.nlm.nih.gov]

  Aim: to better define epilepsy and EEG phenotype in patients with Pallister-Killian syndrome (PKS) in order to improve treatment, avoiding misdiagnosis and suggesting possible pathogenic mechanisms underlying epilepsy in this genetic condition. [euraxess.ec.europa.eu]

• Multiple Congenital Anomalies

  Tetrasomy 12p is a multiple congenital anomaly syndrome characterized by the tissue-specific presence of a marker chromosome in fibroblasts, but not lymphocytes, of affected patients. [mhmedical.com]

  It is a multiple congenital anomalies/mental retardation syndrome caused by mosaic tetrasomy of chromosome 12p. [ncbi.nlm.nih.gov]

• Coarse Facial Features

  The clinical symptoms associated with this condition were first recognized in 1977, when Pallister described two adults, aged 19 and 37, who had profound retardation, severe hypotonia, coarse facial features, and pigmentary abnormalities. [mhmedical.com]

  Common clinical manifestations include: hypotonia, visual impairment, hearing loss, coarse facial features, intellectual disability, and congenital heart defects. [dune.une.edu]

  Systemic features in childhood are numerous and variable, and include most frequently "coarse" facial features, midface malformations, psychomotor delay, hypotonia, scalp hair sparsity, and variegated lightly and darkly pigmented skin.1-9 We describe [jamanetwork.com]

  These include severe intellectual disability, poor muscle tone, coarse facial features, and a prominent forehead. They tend to have a very thin upper lip, with a thicker lower lip and a short nose. [demo.staywellhealthlibrary.com]

• Short Finger

  The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short fingers, single transverse crease in the right hand, and hypotonia. [ashg.org]

  ] 0002089 Renal cyst Kidney cyst 0000107 Renal dysplasia 0000110 Seizures Seizure 0001250 Short phalanx of finger Short finger bones 0009803 Short toe Short toes Stubby toes [ more ] 0001831 Single transverse palmar crease 0000954 Small scrotum Underdeveloped [rarediseases.info.nih.gov]

• Weight Gain

  Maternal weight gain was approximately 29.48 kg. AF and his sibling (MF) were delivered at 36 weeks of gestation by cesarean section. AF weighed 3.13 kg (6.9 lbs, 25th percentile) and had APGAR scores of 1 and 8 at 1 and 5 min, respectively. [frontiersin.org]

• Failure to Thrive

  Her growth curve is below the third centile, indicating failure to thrive. She has global delay in development and is presently attending the Early Intervention Program for Infants and Children at a special school. [nature.com]

• Macroglossia

  The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia prognathia, everted lower lip, and severe psychomotor retardation with muscular hypertonia and contractures. [ncbi.nlm.nih.gov]

  As patients pass into adolescence, the syndrome is characterized by a coarse and flat face, macroglossia, prognathism, inverted lower lip and psychomotor retardation with muscular hypertonia and contractures. [popflock.com]

  As patients pass into adolescence, the syndrome is characterized by a coarse and flat face, macroglossia prognathia, inverted lower lip, and psychomotor retardation with muscular hypertonia and contractures. [wikidoc.org]

  CASE REPORT: A 5-year-old male patient with typical PKS characteristics (facial dimorphism, temporal alopecia, micrognathia, macroglossia, mental retardation, seizures and pigmentary skin lesions) was scheduled to magnetic resonance of the head under [scielo.br]

• High Arched Palate

  Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported in the medical literature. [ncbi.nlm.nih.gov]

  PKS has the following characteristics: low muscle tone facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse scalp hair at birth high, arched palate hypopigmentation extra nipples cognitive [pkskids.net]

  […] forehead, broad nasal bridge,short nose, wide space between the eyes,low-set ears sparse scalp hair at birth high, arched palate or cleft palate hypopigmentation cognitive and developmental delays diaphragmatic hernias(about 40%;this potentially serious [physio-pedia.com]

  The facial appearance includes coarse facies (coarseness becomes more pronounced with age), prominent forehead, hypertelorism, upslanting palpebral fissures with epicanthal folds, small nose with upturned nares, high arched palate, macrostomia, long philtrum [molecularcytogenetics.biomedcentral.com]

• Macrostomia

  The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay [ncbi.nlm.nih.gov]

  The facial appearance includes coarse facies (coarseness becomes more pronounced with age), prominent forehead, hypertelorism, upslanting palpebral fissures with epicanthal folds, small nose with upturned nares, high arched palate, macrostomia, long philtrum [molecularcytogenetics.biomedcentral.com]

  The last reevaluation was at 16 y, when he had: microbrachycephaly; mild frontotemporal baldness; dysmorphic face (sparse eyebrows and lashes, relatively small cornea, “pointed pupil”, flat zygomatic area, normal nose, short and prominent philtrum, macrostomia [mdpi.com]

• Hearing Impairment

  The results showed a severe neurosensorial hearing impairment involving both sides, but the right one was more damaged [9]. Since that moment she is carrying hearing aids in both ears. [hilarispublisher.com]

  Vision and hearing impairments may occur. Patients may also exhibit congenital heart defects, gastroesophageal reflux, cataracts and supernumerary nipples. Diaphragm problems are also possible. [popflock.com]

  Vision and hearing impairments may occur. Patients may also exhibit congenital heart defects, gastroesophageal reflux, cataracts, and supernumerary nipples. Diaphragm problems seen in newborns can lead to death shortly after birth. [wikidoc.org]

  impairment Deafness Hearing defect [ more ] 0000365 Hyperpigmented streaks 0007572 Hypertonia 0001276 Hypertrophic cardiomyopathy Enlarged and thickened heart muscle 0001639 Hyperventilation Rapid breathing 0002883 Hypopigmented streaks 0007535 Hypoplastic [rarediseases.info.nih.gov]

  The treatment measures include: Use of breathing aids (immediately after birth), in case of severe respiratory condition Diaphragmatic hernia may require prompt and early surgical intervention Use of hearing and vision aids to help with poor hearing and [dovemed.com]

• Muscle Hypotonia

  This syndrome also includes developmental disabilities such as intellectual and motor disability, muscle hypotonia and it is often related with seizures. [hilarispublisher.com]

  […] cm (+2.5 SD), dysmorphic face (prominent forehead, hypertelorism, down-slanting palpebral fissures, partial palpebral ptosis of the left eye, broad nasal bridge, long philtrum, thin upper lip, everted lower lip, micrognathia, low-set malformed ears), muscle [mdpi.com]

• Hypertelorism

  This disease is a multisystem disorder characterized by a dysmorphic phenotype which includes rounded forehead, broad nasal bridge and short nose, hypertelorism, wide mouth with thin upper lip and long tongue, and low-set ears. [hilarispublisher.com]

  The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short fingers, single transverse crease in the right hand, and hypotonia. [ashg.org]

  Shortly after birth, he was noted to be dysmorphic with a prominent forehead, flat nasal bridge, hypertelorism, and small low set ears. [healio.com]

  We showed that the most consistent pre-natal ultrasound findings include hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia and hydramnios. [ncbi.nlm.nih.gov]

  However, it is often unlikely that these samples will be tested when the blood karyotype is normal. [6] Using an ultrasound, Pallister-Killian may be diagnosed through observation of hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic [popflock.com]

• Broad Nasal Bridge

  nasal bridge highly arched palate epicanthal folds large ears with lobes that are thick and protrude outward. [en.wikibooks.org]

  Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. [rarediseases.org]

  Craniofacial manifestations include a ``coarse'' face with flat profile, high forehead with temporo-frontal balding, sparseness of eyebrows and lashes, shallow supraorbital ridges, upslanting palpebral fissures, hypertelorism, flat and broad nasal bridge [orpha.net]

  PKS has the following characteristics: low muscle tone facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse scalp hair at birth high, arched palate hypopigmentation extra nipples cognitive [pkskids.net]

  Subsequent interphasic FISH with a centromeric probe detected tetrasomy 12p in mosaic.The postnatal phenotype of PKS is quite severe and include coarse facies with a high forehead, sparce scalp hair, hypertelorism, broad nasal bridge, hypotonia, streaks [fupress.net]

• Short Neck

  Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal weight, length, and OFC parameters as well as hyperpigmented streaks. [ncbi.nlm.nih.gov]

  Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. [dergipark.org.tr]

  Newborns and children also have a specific phenotype, characterized by facial dimorphism: "coarse" facies, high forehead, sparse lashes and eyebrows, shallow supraorbital ridges, hypertelorism, flat nasal bridge, long philtrum, short neck, low-implanted [symptoma.com]

  short neck [ 8, 9 ]. [synapse.koreamed.org]

  Less frequent features include short neck, corneal clouding, narrow thorax, hypoplastic nipples, excess neck skin, genital abnormalities, cystic renal dysplasia, and central nervous system malformations (10). [latunisiemedicale.com]

The diagnosis relies on the detection of the mosaic tetrasomy of isochromosome 12p. This can be done by various techniques, performed on different cell types. The most reliable choice is to perform an amniocentesis, as i(12p) is found in all amniocytes in fetuses suffering from this condition [7]. Similarly, all newborn bone marrow cells have this trait [8], whereas a variable percentage of fibroblasts, lung, liver, testes and spleen cells exhibit the abnormality, hence the "tissue-specific mosaicism" term. Lymphocytes are infrequently affected, therefore blood karyotype may not be a reliable method to diagnose this illness, especially due to the high turnover of blood cells. Fibroblasts may be obtained from buccal smears or skin areas with different pigmentation. The percentage of i(12p) cells does not correlate with disease severity [9]. Furthermore, the number of detectable diseased cells decreases as the patient ages [10].

Fluorescence in situ hybridization (FISH) [11] [12] and interphase FISH are reliable diagnostic methods [13]. Other methods include karyotype analysis, array comparative genomic hybridization (CGH) and chromosomal microarray. A normal karyotype of blood cells does not exclude the diagnose. In case clinical doubt persists, newer diagnostic methods, such as spectral karyotyping and multiplex-FISH may shed light over the case [14].

We kept Levetiracetam seizures treatment until she was 11 months old. It was suspended due to the absence of seizures and normal electroencephalogram. [hilarispublisher.com]

[…] bones, muscle, blood, and connective tissue If a chromosome error arises after these tissues differentiate, there could be an error in the skin cells that is not present in other tissues that came from other germ layers Surveillance, management, and treatment [en.wikibooks.org]

TREATMENT Treatment is dependent on the medical condition of the individual and the affected organ defects. Affected school age children may benefit from early intervention programs and special education. [secure.ssa.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

< Previous section Next section > < Previous section Next section > Standard Therapies Treatment There is no specific therapy for individuals with Pallister-Killian mosaic syndrome. [rarediseases.org]

[…] in the skin cells that is not present in other tissues that came from other germ layers Surveillance, management, and treatment options[edit | edit source] There is no specific therapy for individuals with Pallister-Killian Syndrome Because of poor prognosis [en.wikibooks.org]

Very poor long-term prognosis. All survivors are mentally retarded. Sporadic inheritance. [mhmedical.com]

Prognosis Prognosis is usually poor. Death may occur perinatally, mainly due to diaphragmatic hernias, or during the first years of life in about a half of patients. [orpha.net]

The prognosis for PKS is poor, although several people have been identified with mild intellectual disability and less obvious physical abnormalities. [secure.ssa.gov]

It is generally observed that the child’s mobility is affected, in most cases The prognosis depends on the severity of the signs and symptoms. [dovemed.com]

The genetic etiology is a result of isochromosomes that have either two q arms (long) or two p arms (short). Therefore isochromosome 12p is a chromosome 12 with two p arms. Most cells have two copies of each chromosome with one from each parent. [slideshare.net]

Pallister-Killian Syndrome Genetic Etiology[edit | edit source] Tetrasomy 12p (mosaicism) Incidence and carrier frequency[edit | edit source] Very rare disorder Affects males and females in equal numbers >30 cases reported in the literature Risk to various [en.wikibooks.org]

Extra ring chromosomes might be a more common etiology for PKS than previously thought, given the difficulty in their characterization before the advent of aCGH. [ncbi.nlm.nih.gov]

Etiology Patients with PKS have mosaïcism for a supernumerary isochromosome 12p, resulting in four copies of the short arm of chromosome 12 instead of the normal two. The isochromosome is mostly of maternal origin. [orpha.net]

Etiology : Mosaic tissue-limited tetrasomy for chromosome 12p. (Presence of an extra isochromosome 12p. So in effect there are 4 copies of 12p.) Usually picked up only on a buccal smear or skin biopsy sample. Inheritance : Sporadic condition. [genetics4medics.com]

Summary Epidemiology Incidence is uncertain and is estimated around 1/25,000. Clinical description A number of cases are prenatally diagnosed because of abnormal ultrasonic findings, and abnormal presentation at birth is usual. [orpha.net]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Portable functional neuroimaging as an environmental epidemiology tool: a how-to guide for the use of fNIRS in field studies. Environ Health Perspect. (2017) 125:094502. doi: 10.1289/EHP2049 PubMed Abstract | CrossRef Full Text 23. [frontiersin.org]

Although pathophysiologic brain changes including intellectual disability, encephalopathy, and seizures are commonplace, detailed imaging descriptions and illustrations of the brain and related structures are lacking in the current medical literature. [ncbi.nlm.nih.gov]

In addition, we review the several cases in which hiccups have been associated with seizures and how this may relate to the neural pathways involved in the pathophysiology of hiccups. [worldwidescience.org]

Abdul-Rahman 1 1) Dept Preventive Medicine; 2) Dept Pediatrics, Univ of Mississippi Med Ctr, Jackson, MS. Pallister-Killian Syndrome (PKS) was first reported in 1977 with mosaicism in fibroblasts for an extra chromosome composed of 12p. [ashg.org]

This study suggests that individuals affected by PKS should be observed closely for oro-dental diseases and a multidisciplinary approach is needed to implement the right preventive measures. © 2016 Wiley Periodicals, Inc. [ncbi.nlm.nih.gov]

We began single dose amoxicillin 20 mg/kg/day as preventive treatment. A cardiac sonography did not reveal any structural disease, but it was remaining a little patent foramen oval. [hilarispublisher.com]

Medical researchers are still trying to understand the unique Pallister-Killian Syndrome and find ways to prevent its occurrence Even though PKS is not an inherited syndrome, those with a family history of tetrasomy (disorder with extra pairs of chromosomes [dovemed.com]

[…] report published in 2018[6], the following have shown results- Clinical presentation - hypotonia, developmental delay Physical assessment - tone, developmental milestones, ROM, deformity/contractures, scoliosis Plan of care - educate parents/caregivers, prevent [physio-pedia.com]

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