Developmental Defects Flashcards
(33 cards)
4th week of development
Development of central face begins
6-7th weeks of development
- medial nasal process mergers with maxillary process of 1st branchial arch
- 7th week = bilateral projections emerge forming palatal shelves which are vertical, as mandible grows the tongue drops and the palatal shelves rotate to be horizontal
8th Week
shelves proliferate and fuse in the midline with the anterior fusing first the progressing back
Cleft Lip
defective fusion of the medial nasal processes with the maxillary process
Cleft Palate
defective fusion of the palatal shelves
What is the odds of cleft palate/lip?
- 1 in 700 live births
- 1.5 times higher in Asians and 3.6 per 1000 live births in Native Americans
- M:F = 1.5:1
- isolated CP is more common in females
% of cases that are CP & CL?
45%
% of cases that are CP?
30%
% of cases that are CL?
25%
Cause of CL & CP?
- a genetic mutation in the fibroblast growth factor
- complex trait with a multifactorial etiology
% of CL that is unilateral and on what side?
70% occur on left side
Lateral Facial Cleft
lack of fusion of maxillary and mandibular processes; occurs from commissure to the ear
Oblique Facial Cleft
very rare, associated with cleft palate; extends from the upper lip to the eye
Median Cleft of the Upper Lip
very rare, failure of fusion of the medial nasal processes;
Commissural Lip Pit
- mucosal invaginations at the corner of the mouth
- common, 10-20% of adults
- have a higher prevalence of preauricular pits
- no treatment necessary unless infected (surgical excision)
Paramedian Lip Pits
- rare, congenital invaginations (or bump) of the median lower lip that are usually bilateral symmetric fistulas
- occurs in median lower lip
- autosomal dominant traits associated with cleft lip and/or palate
- seen in ver der Woude or Popliteal Pyterygium syndrome
- no treatment needed
Double Lip
- redundant fold of tissue on the inside of the lip
- usually congenital but can be acquired
- associated with Ascher Syndrome (double lip, blepharochalasis (droopy eyelids), non toxic thyroid enlargement)
Fordyce Granules
- ectopic (in abnormal position) sebaceous glands on the oral mucosa
- on the buccal mucosa or lateral position of the vermilion on upper lip, could be on genital mucosa
- common, 80% of adults
- present as multiple yellow or white papules
- no treatment needed
Leukoedema
- common 70-80% of adult blacks and 50% black children
- milk white diffuse mucosa with folded or wrinkled surface that disappears when stretched
Microglossia
- very rare
- small tongue
- associated with: oromandibular-limb hypogenesis syndromes, hypodactylia (absence of digits), hypomelia (incomplete part or all of limb), and situs inversus (mirror positioning of internal organs)
Macroglossia
- large tongue
- congenital/hereditary association: vascular malformations, hemihyperplasia (enlargement of onside of body), Cretinism, Beckwith-Wiedemann syndrome, Down syndrome
- acquired: amyloidosis, myxedema, acromegaly, angioedema, tumors
Lingual Thyroid
- ectopic thyroid gland
- at the junction of the anterior 2/3 and posterior 1/3, site of developing foramen cecum in midline
- 4-7 more frequent in females, 70% of cases this is only thyroid tissue
- May need surgical removal or repositioning
- symptoms usually develop during puberty, pregnancy or menopause
Lingual Tonsil
- relatively common, possible enlarged but benign tonsil
- tonsil on the tongue
- may need to remove if biopsy is positive
Tonsillar Enlargement
- common, enlarged tonsils
- may have tonsiliths (calcifications that form on crypts of palatal tonsils)