Pallister–killian Syndrome

Salzano, Emanuela; Raible, Sarah E.; Krantz, Ian D.

doi:10.1002/9781119432692.ch45

Cited by 1 publication

(7 citation statements)

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“…Pallister-Killian syndrome (PKS, OMIM #601803) is a rare, sporadic genetic disorder defined by the association of a characteristic dysmorphic face with pigmentary skin anomalies, profound intellectual disability, hypotonia, and seizures [1][2][3]. The disorder was described first in adults by Pallister [4] and later in children by Killian and Tescler-Nicola [5], and shows a moderate preponderance of females [6].…”

Section: Introductionmentioning

confidence: 99%

“…Quantitative ultrasound is a radiation-free method that can be used to evaluate bone quality and abnormalities [28]. Differential diagnosis should consider mainly Fryns syndrome, Trisomy 12p, and Sifrim-Hitz-Weiss syndrome [3]. Next-generation phenotyping software using photoanalysis could be useful [32].…”

Section: Introductionmentioning

confidence: 99%

“…There are no skin pigmentation anomalies, and the neurological outcome is usually better. As with PKS, the facial features change with age (coarser, prognathism, malar hypoplasia) [3].…”

Section: Introductionmentioning

confidence: 99%

“…Polyhydramnios; clefting; and ocular, urogenital, cerebral, cardiovascular, and gastrointestinal defects may be associated, as well as low hairline and hypertrichosis. A subset of affected individuals have biallelic pathogenic variants in the PIGN gene [3].…”

Section: Introductionmentioning

confidence: 99%

“…Sifrim-Hitz-Weiss syndrome (produced by de novo mutations in CHD4, a gene located in PKS critical region) is characterized by milder intellectual disability, dysmorphic face (similar to PKS), hypotonia, hearing loss, enlargement of lateral ventricles, and heart defects. Some patients have bone fusions [3].…”

Section: Introductionmentioning

confidence: 99%

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Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review

Arghir

Popescu

Resmerita

et al. 2021

Genes

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Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Features not yet or rarely reported in PKS literature include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. After performing different combinations of tests, we conclude that MLPA (follow-up kit P230-B1) or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis in PKS and we recommend either one as a first intention diagnostic test. In cases without major defects associated (suspicion trisomy 12p), subtelomeric MLPA should be performed first.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…There are no skin pigmentation anomalies, and the neurological outcome is usually better. As with PKS, the facial features change with age (coarser, prognathism, malar hypoplasia) [3].…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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