Transmission of the dysgnathia complex from mother to daughter.
We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.
Erlich
M S
MS
Department of Pathology, University of Washington, Seattle, Washington 98195-6100, USA. shalae@u.washington.edu
Cunningham
M L
ML
Hudgins
L
L
D000328:Adult; D001934:Branchial Region / Q000002:abnormalities / Q000254:growth & development; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005146:Facial Asymmetry / Q000209:etiology; D005192:Family Health; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D007569:Jaw Abnormalities / Q000209:etiology*; D008334:Mandible / Q000002:abnormalities; D008865:Microstomia / Q000209:etiology / Q000473:pathology; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D014057:Tomography, X-Ray Computed