A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome
Abstract
:1. Introduction
Year | 2024 | 2024 | 2020 | 2019 | 2019 | 2019 | 2018 | 2017 | 2015 | 2015 | ∑ | 2024 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
author | Bregvadze [10] | Martín-Valbuena [11] | Martin [5] | Ciaccio [12] | Plamper [13] | Yotsumoto [14] | Kato [15] | Hansen-Kiss [16] | Busa [17] | Smpokou [18] | cases | percentage | present case |
cases | 1 | 11 | 13 | 16 | 23 | 1 | 6 | 47 | 7 | 34 | 159 | ||
male | 1 | 7 | 13 | 14 | 15 | 1 | 2 | 29 | 3 | 23 | 108 out of 159 | 68% | male |
skin observations * | 1 out of 1 | 3 out of 10 | 13 out of 13 | 7 out of 16 | 17 out of 23 | 1 out of 1 | 1 out of 6 | 30 from 47 | 4 out of 7 | 12 out of 31 | 89 out of 155 | 57% | nuchal naevus flammeus |
macrocephaly | 1 out of 1 | 7 out of 11 | 13 out of 13 | 16 out of 16 | 23 out of 23 | 1 out of 1 | 6 out of 6 | 46 from 47 | 6 out of 7 | 27 out of 27 | 146 out of 152 | 96% | yes |
cardic/vascular | 0 out of 11 | 3 out of 16 | 1 out of 23 | 1 from 47 | 1 out of 7 | 16 out of 34 | 22 out of 138 | 16% | persistent ductus arteriosus | ||||
developmental delay | 1 out of 1 | 8 out of 11 | 9 out of 13 | 9 out of 16 | 10 out of 23 | 1 out of 1 | 6 out of 6 | 15 from 33 | 4 out of 7 | 23 out of 25 | 86 out of 136 | 63% | motor |
malignancy observed ** | 0 out of 11 | 1 out of 13 | 0 out of 16 | 2 out of 7 | 0 out of 47 | 5 out of 34 | 8 out of 128 | 6% | no | ||||
thyroid abnormalities *** | 1 out of 1 | 1 out of 11 | 4 out of 13 | 1 out of 16 | 14 out of 23 | 7 out of 27 | 10 out of 18 | 38 out of 109 | 35% | no | |||
autism spectrum disorder | 1 out of 1 | 3 out of 11 | 4 out of 16 | 1 out of 23 | 1 out of 1 | 1 out of 6 | 25 out of 33 | 1 out of 7 | 7 out of 7 | 44 out of 105 | 42% | n.a | |
genital lentiginosis | 1 out of 1 | 0 out of 11 | 6 out of 6 | 0 out of 14 | 8 out of 15 | 12 out of 29 | 0 out of 3 | 19 out of 19 | 46 out of 98 | 47% | no | ||
facial dysmorphism | 5 out of 11 | 14 out of 14 | 1 out of 1 | 6 out of 6 | 1 out of 47 | 27 out of 79 | 34% | no | |||||
gastrointestinal polyposis | 1 out of 1 | 3 out of 3 | 6 out of 10 | 9 out of 12 | 19 out of 26 | 73% | n.a. | ||||||
overgrowth | 1 out of 1 | 3 out of 11 | 3 out of 7 | 7 out of 19 | 37% | no | |||||||
oral mucosal papillomatosis | 4 out of 13 | 4 out of 13 | 31% | no | |||||||||
oral dysmorphism | 3 out of 11 | 3 out of 11 | 27% | cleft palate | |||||||||
MRI white matter hyperdensity | 1 out of 7 | 4 out of 16 | 7 out of 15 | 0 out of 1 | 2 out of 6 | 5 out of 16 | 3 out of 5 | 22 out of 66 | 33% | yes | |||
MRI cerebellar signs | 2 out of 7 | 6 out of 16 | 1 out of 15 | 0 out of 1 | 0 out of 16 | 9 out of 55 | 16% | no | |||||
MRI enlarged perivascular spaces | 2 out of 7 | 10 out of 16 | 3 out of 15 | 1 out of 1 | 1 out of 6 | 3 out of 5 | 20 out of 50 | 40% | yes |
2. Case Description
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Nestler, U.; Gräfe, D.; Strehlow, V.; Jauss, R.-T.; Merkenschlager, A.; Schönfeld, A.; Wilhelmy, F. A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome. Clin. Pract. 2025, 15, 22. https://doi.org/10.3390/clinpract15010022
Nestler U, Gräfe D, Strehlow V, Jauss R-T, Merkenschlager A, Schönfeld A, Wilhelmy F. A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome. Clinics and Practice. 2025; 15(1):22. https://doi.org/10.3390/clinpract15010022
Chicago/Turabian StyleNestler, Ulf, Daniel Gräfe, Vincent Strehlow, Robin-Tobias Jauss, Andreas Merkenschlager, Annika Schönfeld, and Florian Wilhelmy. 2025. "A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome" Clinics and Practice 15, no. 1: 22. https://doi.org/10.3390/clinpract15010022
APA StyleNestler, U., Gräfe, D., Strehlow, V., Jauss, R.-T., Merkenschlager, A., Schönfeld, A., & Wilhelmy, F. (2025). A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome. Clinics and Practice, 15(1), 22. https://doi.org/10.3390/clinpract15010022