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.
Departments of aClinical Genetics
bOral and Maxillofacial Surgery
cOphthalmology
dThe RAREDIS Database, Section of Rare Diseases, Department of Clinical Genetics
e3D Craniofacial Image Research Laboratory, Centre of Head and Orthopedics, Copenhagen School of Dentistry, University of Copenhagen, Copenhagen University Hospital Rigshospitalet
fFaculty of Health and Medical Sciences
gDepartment of Odontology, Pediatric Dentistry and Clinical Genetics, Faculty of Health and Medical Sciences, University of Copenhagen
hDepartment of Applied Mathematics and Computer Science, Technical University of Denmark, Copenhagen, Denmark
Correspondence to Daniel Nyboe, MSc, Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen OE, Denmark Tel: +45 3545 1324; fax: +45 3532 6760; e-mail: fkp105@alumni.ku.dk
Received December 6, 2017
Accepted March 13, 2018
