robbypowell's version from 2018-09-25 13:48

Dr Nunez


Question Answer
the study of abnormal development; this study deals with developmental anomalies but also deal with genetic defects as welldysmorphology
study of abnormalities of physiological development... in greek meaning "the study of monsters"teratology
Refers to "the study of things that run together"; this study deals with multiple anomalies or birth defects that occur togethersyndromology
classification of anomaly: a morphologic defect of an organ, part of an organ, or a larger area of the body resulting from intrinsically abnormal developmentMalformation
approximately ___% of newborns have significant malformations3%
the most common class of malformations is ______ ______ (Developmental arrest of a forming structure occurs)incomplete morphogenesis (e.g. Cleft Palate)
what classification of anomaly is Pierre Robin's Sequence? (syndrome/malformation/disease)Malformation
classification of anomaly: an abnormal form or position of a part of the body caused by nondisruptive mechanical forcesDeformation (e.g. Club foot, Congenital hip dislocation, Congenital postural scoliosis, Deformation of the mandible)
Approximately ___% of infants are born with deformations2%
Classification of Anomaly: Morphologic defect of an organ, part of an organ, or a larger regions of the body resulting from a breakdown of, or interference with, originally normal developmentDisruption
If the anomaly looks like a malformation but makes no embryonic sense, it is probably a ______disruption
An open calvarial defect resulting from disruptive amniotic bands may be mistaken for anencaphaly,... but is actually a _______ rather than a malformationDistuption
A true malformation syndrome is characterized by _____ ______ in which a pattern of unrelated malformations occurs; that is, the malformations that make up the syndrome occur in embryonically noncontiguous areasembryonic pleiotropy

which condition? (identify)

Question Answer
A single gene disorder. Autosomal dominant inheritance. Bizzare physical appearance and accompanying mental retardation often reduces genetic fitness of affected individuals (unlikely to marry and produce offspring, most instances represent fresh mutations). early fusion of coronal, sagittal, AND Lambdoid suture.Apert’s syndrome
Premature fusion of cranial suturescraniosynostis

what type of head shape associated with this cranial suture pattern?

Question Answer
Coronal suture fuses prematurely. Compensatory growth occurs laterally at the patent sagittal sutureBrachycephaly
Sagittal suture fuses prematurely. Compensatory growth occurs in the A-P direction through passive growth At the coronal and lambdoidal sutures.Dolichocephaly
Interfrontal suture fuses prematurely, Growth of the frontal bone is restricted laterally. Normal growth continues at the other sutures and a triangular calvaria resultsTrigonocephaly
unilateral closure of one side of the coronal or lambdoidal suture; resulting in asymmetric skull shapePlagiocephaly

suture fusion & associated syndrome

Question Answer
Early fusion of which sutures is associated with Apert’s syndrome? Is it more or less symmetrical than Crouzon? More or less severe than Crouzon's?Coronal, Sagittal, Lambdoid* (crouzon's does not involve lambdoid but does other two); more asymmetrical; more severe