Exam 3: The Genetics Evaluation and Common Craniofacial Syndromes

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Match the letter of the answer with each item.Note: Not all answers in the word banks are used, and some may be used more than once.
Craniosynostosis that does not involve the digits
Crouzon syndrome
Nonsyndromic cause of a wide, bell-shaped cleft palate and glossoptosis
Orofacial digital syndrome
May include unilateral paralysis of the velum
Stickler’s syndrome
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Craniosynostosis that does not involve the digits
Crouzon syndrome
Nonsyndromic cause of a wide, bell-shaped cleft palate and glossoptosis
Orofacial digital syndrome
May include unilateral paralysis of the velum
Stickler’s syndrome
Includes macroglossia
Generation X syndrome
Includes cleft palate and myopia
Van der Woude syndrome
Includes bilateral lip pits and cleft palate
Beckwith-Wiedemann syndrome
Includes exopthalmos due to premature closure of the coronal sutures and syndactyly 2
Moebius syndrome
Includes 47 chromosomes and causes severe brain anomalies, including holoprosencephaly
Velocardiofacial syndrome
Is not always due to genetic factors, but can be part of a particular syndrome
Pfeiffer's
Involves facial paralysis affecting bilabial movement
Treacher Collins syndrome
Due to craniosynostosis and also involves syndactyly
Apert syndrome
Includes Pierre Robin sequence; narrow palpebral fissures; short stature; and long, tapered fingers
Neurofibromatosis 1
Includes a lobulated tongue and is fatal in males
Hemifacial microsomia
Includes macroglossia
Pierre Robin sequence
Also called 22q11.2 syndrome
Trisomy 13
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What is failure of the brain to divide into two separate hemispheres called?

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C

Cleft palate rather than cleft lip) is more likely to be associated with which of the following?

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B

Match the letter of the answer with each item.Note: Not all answers in the word banks are used, and some may be used more than once.
An abnormally small mandible
Microstomia
Abnormal development of the cranial skeleton due to premature ossification of one or more cranial sutures, resulting in malformation of the skull with growth
Microcephaly
Small or dysplastic ears
Macrosomia
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An abnormally small mandible
Microstomia
Abnormal development of the cranial skeleton due to premature ossification of one or more cranial sutures, resulting in malformation of the skull with growth
Microcephaly
Small or dysplastic ears
Macrosomia
The posterior displacement of the tongue in the pharynx; can cause airway obstruction
Brachydactyly
Fusion or webbing of the digits fingers and/or toes)
Prognathia
A large mouth opening, often due to failure of fusion between the maxillary and mandibular process of embryonic development of the face
Macroglossia
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A pattern of multiple anomalies within an individual where one anomaly leads to the development of the other anomalies
Malformation
Birth defect that arises as a result of abnormal mechanical or physical forces in the fetal environment on an otherwise normal structure
Syndrome
A pattern of multiple anomalies that regularly occur together and are pathogenically related
Sequence
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A pattern of multiple anomalies within an individual where one anomaly leads to the development of the other anomalies
Malformation
Birth defect that arises as a result of abnormal mechanical or physical forces in the fetal environment on an otherwise normal structure
Syndrome
A pattern of multiple anomalies that regularly occur together and are pathogenically related
Sequence
Anomaly that results from an intrinsically abnormal developmental process and is due to a genetic etiology
Association
A morphologic defect due to an extrinsic breakdown or interference with a normal developmental process
Disruption
A nonrandom occurrence of a pattern of multiple anomalies in two or more individuals that are not a known syndrome or sequence
Deformation
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