The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature.
An unusual, isolated case of the Rieger anomaly coincident with a multitude of dental, craniofacial, and systemic anomalies is described. Significant dental findings were severe enamel hypoplasia, conical and misshapen teeth, hypodontia, and impactions. Craniofacial disorders were underdevelopment of the maxilla, mandible, and anterior and posterior cranial bases, low-set ears, and a wide nasal bridge. Reported for the first time is the association of this genetic disorder with bilateral microcondyles and bilateral choanal atresia. Embryologic disturbance of the neural crest ectoderm is suspected. The patient also manifested anal atresia, scoliosis, kyphosis, and short stature. A discussion distinguishing this case report from the Rieger syndrome is presented. In addition, the possibility that the patient exhibited a previously unreported syndrome is also considered, and the term Short-F-R-A-M-E is proposed to name this new syndrome.
Brooks
J K
JK
Baltimore College of Dental Surgery, University of Maryland.
Coccaro
P J
PJ
Zarbin
M A
MA
D000015:Abnormalities, Multiple; D000293:Adolescent; D000867:Anterior Chamber / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005901:Glaucoma / Q000473:pathology; D006130:Growth Disorders; D006801:Humans; D008312:Malocclusion, Angle Class II / Q000473:pathology; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology