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UAMS Dysmorphology 1
Head and Dr. Schaeffer's lectures
| Term | Definition |
|---|---|
| Calvarium | 5 bony plates protecting the newborn's brain |
| Skull Base | Facial Bones |
| Name the 4 Sutures | Metopic, Coronal, Sagittal, Lambdoidal |
| Name the 2 Fontanels | Anterior, Posterior |
| Which of the sutures close by age 2? | Metopic |
| The remaining sutures remain open until when? | Puberty |
| Frontal Bossing | Is an unusually prominent forehead, sometimes associated with a heavier than normal brow ridge. |
| Brow Ridge | the bony prominence above the eye |
| Metopic synostosis | Premature closure of metopic suture. Triangle Head. Non-syndromic Deformation |
| Coronal synostosis | Premature closure of coronal suture. Brachycephaly "short head". Non-syndromic Deformation. Bilateral or Unilateral. |
| Sagittal synostosis | Premature closure of sagittal suture. Dolichocephaly "boat head. MOST COMMON. |
| Lambdoid synostosis | Premature closure of the lambdoid suture. Trapezoid shaped head. LEAST COMMON. |
| Turricephaly | Premature closure of the coronal and lambdoid suture. "Tower Head" |
| Kleeblattschadel | All sutures fused prematurely. Brain grows through fontanels. "Cloverleaf Skull" |
| Deformational plagiocephaly | External forces which results in skull asymmetry. |
| Antley-Bixler syndrome | Trapezoidocephaly-synostosis syndrome. Gene: FGFR2 |
| Apert syndrome | Gene: FGFR2, Craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet |
| Carpenter syndrome | Acrocephalopolysyndactyly type II, Craniosynostosis. GENE: RAB23 |
| Crouzon syndrome | Gene: FGFR2 and FGFR3. trigonocephaly, brachycephaly, dolichocephaly, plagiocephaly, oxycephaly, Kleeblattschaedel |
| Pfeiffer syndrome | Gene: FGFR1 and FGFR2. Craniosynostosis |
| Saethre-Chotzen syndrome | Gene: TWIST. Craniosynostosis and syndactyly |
| Encephalocele | Skull doesn't form properly and the brain protrudes from the opening in skull. MALFORMATION |
| Anencephaly | Absence of the cranium. MALFORMATION |
| Amniotic band syndrome | Ruptured chorionic membrane becomes entangled with fetus and disrupts development of baby parts. DISRUPTION. |
| Skeletal dysplasias | Abnormalities in bone growth; can cause changes in skull shape. Canthomelic Dysplasia |
| A syndrome where Abnormal bone growth leads to skull changes. | Achondroplasia |
| Delayed Ossification | Osteogenesis imperfecta (Wormian Baones), Cleidocranial dysplasia. |
| Chromosome (Deletion and Duplications) | T21 and T18 |
| Syndrome with Macrocephaly | Beckwith Wiedemann |
| Macrocephaly for body | NF1, Achondroplasia, Diastrophic Dwarfism |
| Isolated Macrocephaly | Cowden disease- GENE: PTEN BANNAYAN-RILEY-RUVALCABA SYNDROME |
| Two syndromes which have Microcephaly | FAS, Angelman. |
| Sequence | A pattern of multiple anomalies derived from a single known or presumed structural defect or mechanical factor. |
| Syndrome | A pattern of multiple anomalies though to be pathogenetically related. CHARGE VATER |
| Association | A nonrandom occurrence in 2 or more individuals of multiple anomalies not known to be another. |
| Dysplasia | An Abnormal organization of cells into tissues and the morphological results |
| Deformation | Mechanical forces which results in a defect. Oligohydramnios produces club foot. |
| Disruption | Extrinsic breakdown of or an interference with an originally normal developmental process. |
| Malformation | A morphological defect of an organ, part of an organ, or larger region of the body that results from an intrinsically abnormal development process. |
Created by:
btkosewski
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