Development Diseases Flashcards
_____ anomalies are structural defects that are present at birth.
-does not imply a genetic basis
Congenital
_______ syndrome refers to multiple congenital anomalies that result from a single causative condition that simultaneously affects several tissues.
Malformation
______ refers to multiple congenital anomalies that result from a single causative condition that produces a sequence of downstream effects
Sequence
Lethal
•Failure of migration of neural crest mesenchyme
•Aplasia of mandible
•Ears fused in midline
Agnathia
•Autosomal dominant, but many cases are new mutations
•Associated with a mutation in the Core Binding Factor Alpha 1 (CBFA1) gene at 6p21 that controls osteoblast differentiation, resulting in a generalized disorder of skeletal structures
•CBFA1 also plays a role in odontogenesis through effects on dental lamina proliferation
•Hypoplasia of clavicles
•Frontal bossing
•Midface hypoplasia
•Supernumerary teeth
-Unerupted teeth
Cleidocranial dysplasia
- Autosomal dominant
- Mutation in fibroblast growth factor receptor (FGFR2) gene at 10q
- Variability in clinical appearance
- Craniosynostosis -premature closing of cranial sutures
- Midface hypoplasia
- Proptosis -shallow orbits
- Increased digital markings
- “Beaten metal” pattern
Craniofacial dysplasia
- Autosomal dominant inheritance
- Mutation of gene at 5q31.3-32
- Defects in structures derived form the 1st and 2nd branchial arches
- Hypoplastic zygoma
- Coloboma (notch) of lower eyelid
- Ear anomalies
- Mandibular hypoplasia
Mandibulofacial dysplasia
What are the 3 things involved in the Pierre Robin sequence?
Micrognathia
Cleft palate
Glossoptosis
•A functional pituitary adenoma produces excessive growth hormone secretion after closure of epiphyseal plates •Space-occupying lesion –Hypopituitarism –Visual field changes –Headache •Progressive coarsening of facial features •Enlarged nose •Mandibular prognathism •Soft palate hypertrophy •Macroglossia •Growth of distal extremities
Acromegaly
The following disorders cause \_\_\_\_\_\_\_\_: •Hemifacial hyperplasia •Hemifacial atrophy: Romberg Syndrome •Hemifacial microsomia (hypoplasia) •Condylar hyperplasia •Segmental odontomaxillary dysplasia -hemimaxillofacial dysplasia
Facial Asymmetry
- Asymmetric overgrowth of one side of the face
- Sporadic, not hereditary
- Timing of presentation variable
- May involve all tissues on affected side, including tongue, teeth, even mandibular canal
- Unilateral macroglossia
Hemifacial hyperplasia
- Atrophy of skin and soft tissues of one side of the face
- Affects trigeminal dermatome
- Begins in first two decades, progresses for several years, then stabilizes
- Requires only cosmetic treatment
Progressive Hemifacial Atrophy(Romberg Syndrome)
•Hypoplasia of one side of the face
Hemifacial Microsomia
Idiopathic unilateral growth of the mandibular condyle
Treatment:
•Active growth -condylectomy
•Growth ceased -orthognathic surgery
Condylar Hyperplasia
_______ is due to a lack of merging between the maxillary process and the medial nasal process
Cleft lip
Are most orofacial clefts genetic/hereditary or environmental?
Hereditary/genetic
- Redundant fold of tissue
* Congenital and acquired forms
Double Lip
•A blind tract resulting from incomplete merging between the maxillary and mandibular processes
Commissural Lip Pits
•A blind tract resulting from defective merging within the mandibular process•A marker for cleft syndromes
Paramedian Lip pits
The following are congenital causes of ______
•Vascular malformations: lymphangioma/hemangioma
•Down Syndrome
•Neurofibromatosis
•Multiple Endocrine Neoplasia
Macroglossia
The following are acquired causes of \_\_\_\_\_\_: •Edentulism •Muscular hypertrophy •Amyloidosis •Acromegaly
Macroglossia
•A short, thick lingual frenum limits movement of the tongue
Ankyloglossia (Tongue tied)
- Ectopic thyroid tissue in posterior midline of tongue
* May lack thyroid tissue in neck
Lingual thyroid
- Cystic change of thyroglossal tract epithelium
* Midline of neck in young people
Thyroglossal Duct Cyst
- Cystic change of crypt epithelium of lymphoid aggregate
- Young adults
- Floor of mouth/ Tonsils
Oral Lymphoepithelial Cyst
- Branchial Cleft Cyst
- Cystic change of branchial epithelium
- Upper lateral neck anterior to border of sternocleidomastoid muscle in young adults
- Stratified squamous epithelial lining
- Lymphoid tissue with germinal centers in wall
Cervical Lymphoepithelial Cyst
- Ectopic sebaceous glands
* Development stimulated at puberty
Fordyce Granules
- Autosomal dominant
- Associated with generalized increased risk for malignancy
- Oral and perioral freckling–Present in infancy, fades with age
- Gastrointestinal hamartomatous polyps: Intussusception
Peutz-Jegher Syndrome
- Port wine nevus in trigeminal nerve distribution
- Encephalo-trigeminal angiomatosis -affects tissues of brain and face
- Not hereditary
Sturge Weber Syndrome
