#125490 DENTINOGENESIS IMPERFECTA 1; DGI1 CLINICAL SYNOPSIS Teeth : Dentinogenesis imperfecta Blue-gray or amber brown opalescent teeth Enamel splitting Skel : No increased frequency of bone fractures Radiology : Teeth have bulbous crowns, narrow roots, and pulp chambers and root canals that are small or obliterated Inheritance : Autosomal dominant (? 4q13-q21) Back to top Back to previous page

#166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH CLINICAL SYNOPSIS Teeth : Opalescent teeth Obliterated pulp cavities Constricted coronal-radicular junctions Dentinogenesis imperfecta Eyes : Variable blue sclerae Skel : Greater fracture rate than in Type IB with normal teeth Skull : Wormian bones Platybasia Spine : Scoliosis Kyphosis Biconcave flattened vertebrae Growth : Greater likelihood of growth impairment than in Type IB Ears : Early conductive hearing loss Late sensorineural hearing loss Growth : Short stature in severe cases Skin : Thin skin Head : Normocephaly Cardiac : Mitral valve prolapse Increased aortic root diameter Aortic regurgitation rare Abd : Inguinal hernia Umbilical hernia Thorax : Pectus carinatum Pectus excavatum Limbs : Bowing of limbs due to multiple fractures Joints : Hyperextensible joints Joint dislocation Misc : Intrauterine fractures rare Lab : Normal blood biochemistry Inheritance : Autosomal dominan Back to top Back to previous page

#109400 BASAL CELL NEVUS SYNDROME; BCNS CLINICAL SYNOPSIS INHERITANCE : Autosomal dominant HEAD AND NECK : [Face] Broad facies Frontal and biparietal bossing Mild mandibular prognathism Odontogenic keratocysts of jaws [Eyes] Strabismus Lateral displacement of the inner canthi Hypertelorism Subconjunctival epithelial cysts Iris coloboma Glaucoma [Nose] Broad nasal root [Mouth] Cleft lip Cleft palate CARDIOVASCULAR : [Heart] Cardiac fibroma RESPIRATORY : [Lung] Congenital lung cyst CHEST : [Ribs and sternum] Bifid ribs Synostotic ribs Hypoplastic ribs ABDOMEN : [Gastrointestinal] Lymphomesenteric cysts, often calcified Hamartomatous stomach polyps GENITOURINARY : [Internal genitalia, female] Ovarian fibromata Ovarian carcinoma SKELETAL : [Spine] Scoliosis Kyphoscoliosis Abnormal cervical vertebrae [Limbs] Brachydactyly Short 4th metacarpal Short thumb terminal phalanx SKIN, NAILS, HAIR : Basal cell nevi Basal cell carcinoma Pits of palms and soles NEUROLOGIC : [Central nervous system] Mental retardation Medulloblastoma MISCELLANEOUS : Paternal age effect Abnormal sensitivity to therapeutic radiation MOLECULAR BASIS : Caused by mutations in the human homolog of the Drosophila 'patched' gene (PTC, {601309.0001}) CONTRIBUTORS Kelly A. Przylepa - revised : 2/9/2000 CREATION DATE John F. Jackson : 6/15/1995 EDIT HISTORY joanna : 4/3/2001 kayiaros : 8/22/2000 kayiaros : 8/22/2000 kayiaros : 3/27/2000 kayiaros : 2/25/2000 joanna : 2/9/2000 Back to top Back to previous page