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UAMS Dysmorphology 1

Head and Dr. Schaeffer's lectures

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