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36 Cards in this Set

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First Arch Syndrome

Due to abnormal development of the components of 1st P.A
2ct
Treacher Collins Syndrome

Pierre Robin Syndrome
Treacher Collins Syndrome

Pierre Robin Syndrome
Treacher Collins syndrome
*Mandibulofacial dysostosis, caused by an =

*malar hypoplasia (underdevelopment of the 

also:
Downslanting palpebral fissures
Defects of the lower eyelids
Deformed external ears
abnormalities of the middle and internal ears
*Mandibulofacial dysostosis, caused by an =

*malar hypoplasia (underdevelopment of the

also:
Downslanting palpebral fissures
Defects of the lower eyelids
Deformed external ears
abnormalities of the middle and internal ears
an autosomal dominant gene.

zygomatic bones of the face
Mandibulofacial dysostosis, caused by an autosomal dominant gene.
There is malar hypoplasia (underdevelopment of the zygomatic bones of the face)
Treacher Collins syndrome
▪Malar hypoplasia (underdevelopment of the =

in Treacher Collins
zygomatic bones of the face
Defects of the lower eyelids

***▪Deformed external ears
zygomatic bones of the face
Defects of the lower eyelids

***▪Deformed external ears
Pierre Robin Syndrome
Hypoplasia of mandible
Cleft palate
Defects of eye and ear
obstruction of full closure of the palatine process
Hypoplasia of mandible
Cleft palate
Defects of eye and ear
obstruction of full closure of the palatine process
Pierre Robin Syndrome
The initiating defect is a micrognathia which results in posterior displacement of tongue and obstruction of full closure of the palatine process resulting in =

what Syndrome =
bilateral cleft palate.

Pierre Robin Syndrome
Congenital Abnormalities from 1st Arch Syndrome are:
2ct
-Treacher

-Pierre-Robin
-Treacher

-Pierre-Robin
pharyngeal apparatus aka
Branchial apparatus

consists of:

These embryonic structures contribute to the formation of the =
arches
pouches
grooves
membranes


head and neck.
DiGeorge Syndrome
2ct
Congenital thymic Aplasia
absence of Parathyroid glands
Dz Associated with:

Cardiac abnormalities--defects in arch of aorta
Congenital hypoparathyroidism
Thyroid hypoplasia
DiGeorge Syndrome
Dz S/S

Anomalies of mouth (Fish mouth deformity)
Hypocalcemia
Increased susceptibility to infections
Low set ears, nasal clefts
DiGeorge Syndrome
DiGeorge Syndrome S/S =
Anomalies of mouth (Fish mouth deformity)
Hypocalcemia
Increased susceptibility to infections
Low set ears, nasal clefts
This syndrome occurs when 3rd and 4th P.P fail to differentiate into the thymus and parathyroid glands
DiGeorge Syndrome
DiGeorge Syndrome
Genetic defect in chromosome =
22
Genetic defect in chromosome 22
is =
DiGeorge Syndrome
This syndrome occurs when 3rd and 4th P.P fail to differentiate into the = __________ & __________
thymus
parathyroid glands

+
The facial abnormalities result mainly from abnormal development of 1st arch components.
Congenital hypothyroidism
primary cause =
derangement in development of the thyroid gland.
Congenital hypothyroidism aka =
cretinism
Congenital hypothyroidism (cretinism) occurs when a thyroid deficiency exists during the early fetal period owing to a severe lack of =
-dietary iodine

-thyroid agenesis

-mutations involving the biosynthesis of thyroid hormone.
Congenital hypothyroidism (cretinism)
This condition causes =
2ct
impaired skeletal growth
mental retardation.
Congenital hypothyroidism is characterized by
Coarse facial feature
Dry
Dry, rough skin
Wide-set
Wide-set eyes,
Periorbital puffiness
flat, broad nose, and
large protuberant tongue.
Coarse facial feature
Dry
Dry, rough skin
Wide-set
Wide-set eyes,
Periorbital puffiness
flat, broad nose, and
large protuberant tongue.
Congenital hypothyroidism
Congenital hypothyroidism
A thyroglossal duct cyst occurs when parts of the thyroglossal duct persist and thereby form a cyst.

most commonly located in the -
midline near the hyoid bone


but may also be located at the base of the =
tongue;

it is then called a lingual cyst.
it is very important to differentiate between an
ectopic thyroid
and
accessory thyroid
to prevent =
to prevent inadvertent surgical removal
Sublingual thyroid gland results from incomplete descent of thyroid

If present it is the =
the only thyroid tissue present
________ thyroid tissue is the most common of ectopic thyroid tissue =
Lingual

Lingual thyroid tissue
Ectopic parathyroid gland:

The parathyroid and thymus migrate in a
caudal and medial direction

+
; therefore, ectopic glandular tissue (parathyroid and thymus) may be found anywhere along the migratory path
; therefore, ectopic glandular tissue (parathyroid and thymus) may be found anywhere along the migratory path
Congenital Anomalies of Tongue
= 5ct

H+
Ankyloglossia (Tongue-Tie)
Bifid or Cleft Tongue
Congenital Lingual Cysts and Fistulas
Macroglossia
Microglossia
A
B
CLC/F
Ma
Mi
Fistulas & Cysts in the tongue may be derived from remnants of the

Congenital Lingual Cysts and Fistulas: NOT ON TEST
thyroglossal duct.
frenulum is short and extends to the tip of the tongue
Ankyloglossia
Ankyloglossia
Ankyloglossia (Tongue-Tie)
frenulum is short and extends to the tip of the tongue . This interferes with its free protrusion and may make breast-feeding difficult.
frenulum is short and extends to the tip of the tongue . This interferes with its free protrusion and may make breast-feeding difficult.
Bifid or Cleft Tongue:
Bifid or Cleft Tongue:
Incomplete fusion of the lateral lingual swellings
This is a very uncommon anomaly.
Microglossia – usually associated with micrognathia (underdeveloped mandible and recession of the chin) and limb defects =
Hanhart syndrome
suffix meaning a "condition of the jaw":
gnathia

(egnathia)

+
brachygnathia,
campylognathia,
retrognathia.
gnathia
suffix meaning a
"condition of the jaw":
(egnathia)

Campylo means =
twisted

brachygnathia,
campylognathia,
retrognathia.