A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

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A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. / Nyboe, Daniel; Kreiborg, Sven; Darvann, Tron; Dunø, Morten; Nissen, Kamilla R; Hove, Hanne B.

I: Clinical Dysmorphology, Bind 27, Nr. 3, 07.2018, s. 71-77.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Nyboe, D, Kreiborg, S, Darvann, T, Dunø, M, Nissen, KR & Hove, HB 2018, 'A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics', Clinical Dysmorphology, bind 27, nr. 3, s. 71-77. https://doi.org/10.1097/MCD.0000000000000222

APA

Nyboe, D., Kreiborg, S., Darvann, T., Dunø, M., Nissen, K. R., & Hove, H. B. (2018). A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. Clinical Dysmorphology, 27(3), 71-77. https://doi.org/10.1097/MCD.0000000000000222

Vancouver

Nyboe D, Kreiborg S, Darvann T, Dunø M, Nissen KR, Hove HB. A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. Clinical Dysmorphology. 2018 jul.;27(3):71-77. https://doi.org/10.1097/MCD.0000000000000222

Author

Nyboe, Daniel ; Kreiborg, Sven ; Darvann, Tron ; Dunø, Morten ; Nissen, Kamilla R ; Hove, Hanne B. / A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. I: Clinical Dysmorphology. 2018 ; Bind 27, Nr. 3. s. 71-77.

Bibtex

@article{2f9bb1a9d64f43fc8b84557f15add882,
title = "A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics",
abstract = "In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Leu284Ser in the TFAP2B gene. Family analysis suggested that at least 20 members, extending six generations back, were affected. All 10 members available for genetic testing were heterozygous for the novel pathogenic variant. Qualitative analysis of the facial dysmorphology in the proband and three of the affected family members using three-dimensional surface scanning showed that the major deviations were observed in the forehead/eyebrow, nose, upper lip, and chin regions with, for example, a flattened nose and reduced height of the upper lip and the face. Furthermore, it is suggested that Char syndrome is associated with disturbances of tooth formation and eruption.",
keywords = "3D surface imaging, almond-shaped eyes, Char syndrome, hypodontia, patent ductus arteriosus, TFAP2B",
author = "Daniel Nyboe and Sven Kreiborg and Tron Darvann and Morten Dun{\o} and Nissen, {Kamilla R} and Hove, {Hanne B}",
year = "2018",
month = jul,
doi = "10.1097/MCD.0000000000000222",
language = "English",
volume = "27",
pages = "71--77",
journal = "Clinical Dysmorphology",
issn = "0962-8827",
publisher = "Lippincott Williams & Wilkins",
number = "3",

}

RIS

TY - JOUR

T1 - A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

AU - Nyboe, Daniel

AU - Kreiborg, Sven

AU - Darvann, Tron

AU - Dunø, Morten

AU - Nissen, Kamilla R

AU - Hove, Hanne B

PY - 2018/7

Y1 - 2018/7

N2 - In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Leu284Ser in the TFAP2B gene. Family analysis suggested that at least 20 members, extending six generations back, were affected. All 10 members available for genetic testing were heterozygous for the novel pathogenic variant. Qualitative analysis of the facial dysmorphology in the proband and three of the affected family members using three-dimensional surface scanning showed that the major deviations were observed in the forehead/eyebrow, nose, upper lip, and chin regions with, for example, a flattened nose and reduced height of the upper lip and the face. Furthermore, it is suggested that Char syndrome is associated with disturbances of tooth formation and eruption.

AB - In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Leu284Ser in the TFAP2B gene. Family analysis suggested that at least 20 members, extending six generations back, were affected. All 10 members available for genetic testing were heterozygous for the novel pathogenic variant. Qualitative analysis of the facial dysmorphology in the proband and three of the affected family members using three-dimensional surface scanning showed that the major deviations were observed in the forehead/eyebrow, nose, upper lip, and chin regions with, for example, a flattened nose and reduced height of the upper lip and the face. Furthermore, it is suggested that Char syndrome is associated with disturbances of tooth formation and eruption.

KW - 3D surface imaging

KW - almond-shaped eyes

KW - Char syndrome

KW - hypodontia

KW - patent ductus arteriosus

KW - TFAP2B

U2 - 10.1097/MCD.0000000000000222

DO - 10.1097/MCD.0000000000000222

M3 - Journal article

C2 - 29683802

VL - 27

SP - 71

EP - 77

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

SN - 0962-8827

IS - 3

ER -

ID: 198227589