Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome.
OBJECTIVE
We present the case of a 6-year-old boy with a coarse face, cleft palate, and malocclusion with anterior open bite who had been diagnosed with Simpson-Golabi-Behmel syndrome. Morphology of the craniofacial structures was examined on the basis of conventional radiographs, three-dimensional (3D) computed tomography (CT) and magnetic resonance (MR) scanning.


METHODS
This patient had 13 ribs on the right side, slight scoliosis, supernumerary nipples, a coarse face, hypertelorism, a short broad upturned nose, a wide mouth, a straight facial profile with incompetence of the lips, midline groove of tongue, and cleft palate. The patient also had severe anterior open bite, a distal step-type molar relationship, five congenitally missing teeth, and a supernumerary tooth. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class I jaw relationship with a high mandibular plane angle and large gonial angle. The 3D CT image showed a large cranium, a long face height, and prominent skull sutures. The MR image showed a large tongue, midline groove of the tongue, and a small space between tongue and palate.
Taniyama
Tomohide
T
Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, Osaka University, Suita, Japan.
Kitai
Noriyuki
N
Iguchi
Yoshitaka
Y
Murakami
Shumei
S
Yanagi
Miho
M
Takada
Kenji
K
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002508:Cephalometry; D002648:Child; D002972:Cleft Palate / Q000000981:diagnostic imaging*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000000981:diagnostic imaging* / Q000628:therapy; D011862:Radiography, Panoramic; D013577:Syndrome