ABPD - SYNDROMES & DISEASES
Cleft Lip & Palate Incidence - Answer -1 in 700 (same as downs, neural tube)
CL - is less, 20%
CP - 30%
CL+CP - 50%
Pierre Robin Sequence - Answer -Glossoptosis, micrognathia, cleft palate & 15-25%
have heart disease.
Mand growth can progress normally.
Mandibulofacial Dysostosis
(Treacher Collins) - Answer -*1st branchial arch, pouch, groove
Down sloping palpebral fissures
Depressed cheek bones
Deformed pinnae
Receding chin
Large "fish-like" mouth
Hypoplastic Mandible + 30% CP
Cleidocranial Dysplasia - Answer -Brachycephalic (short face) w/ frontal boss
Depressed nasal bridge
Delayed closure of sutures/fontanels
Extra teeth, delayed exfoliation/eruption
Clavicular defect
Oro-facial-digital syndrome - Answer -Hypoplastic alar cartilage
Hypotrichosis (hair)
Brachycephalic
Cleft tongue and cleft palate
Syndactly
Hyperplastic frenum w/ clefts
Hypo or hyperdontia
Hamartomas on tongue
Apert Syndrome
(Craniosynostosis) - Answer -Syndactyly
Turribrachycephaly (point)
Ocular hypertelorism (far apart)
Cleft Palate (30%)
Intellectual disability
Crowded teeth, delayed eruption, v-shaped max, class III
Crouzon Syndrome
(Craniosynostosis) - Answer -Ocluar hypertelorism (far apart)
, Exophthalmia
Normal intelligence
CL + CP
Crowded teeth, delayed eruption, v-shaped max, max def
Pfeiffer Syndrome
(Craniosynostosis) - Answer -Ocular hypertelorism
Exophthalmia
Normal intelligence
Broad thumbs and great toes
Carpenter Syndrome
(Craniosynostosis) - Answer -Acrocephaly (cone)
Soft tissue syndactyly
Congenital heart disease
Intellectual Disability
Hypo-genitalism
Obese
Acrocephaly AKA... - Answer -Oxycephaly
Turricephaly
Achondroplasia
(Dwarfism) - Answer -80% sporatic, mutations, AD
1-20,000 live births
Short limbs, large head
Depressed nasal bridge
Lordotic lumbar spine
Hypopituitarism
(Dwarfism) - Answer -Well proportioned body
Fine, silky hair
Wrinkled atrophic skin
Hypogonadism
Eruption/exfoliation delayed
Malocclusion (small arch)
Mucopolysaccharidosis - Answer -Hunter/Hurler
- all involve some form of dwarfism
Chondroectodermal dysplasia
(Ellis Van Creveld Syndrome)
(Dwarfism) - Answer -Bilateral polydactyly (extra pinky)
Cardiac defects (40-50%)
Chondrodysplasia (bad cartilage)
Hydrotic ED
Cleft Lip & Palate Incidence - Answer -1 in 700 (same as downs, neural tube)
CL - is less, 20%
CP - 30%
CL+CP - 50%
Pierre Robin Sequence - Answer -Glossoptosis, micrognathia, cleft palate & 15-25%
have heart disease.
Mand growth can progress normally.
Mandibulofacial Dysostosis
(Treacher Collins) - Answer -*1st branchial arch, pouch, groove
Down sloping palpebral fissures
Depressed cheek bones
Deformed pinnae
Receding chin
Large "fish-like" mouth
Hypoplastic Mandible + 30% CP
Cleidocranial Dysplasia - Answer -Brachycephalic (short face) w/ frontal boss
Depressed nasal bridge
Delayed closure of sutures/fontanels
Extra teeth, delayed exfoliation/eruption
Clavicular defect
Oro-facial-digital syndrome - Answer -Hypoplastic alar cartilage
Hypotrichosis (hair)
Brachycephalic
Cleft tongue and cleft palate
Syndactly
Hyperplastic frenum w/ clefts
Hypo or hyperdontia
Hamartomas on tongue
Apert Syndrome
(Craniosynostosis) - Answer -Syndactyly
Turribrachycephaly (point)
Ocular hypertelorism (far apart)
Cleft Palate (30%)
Intellectual disability
Crowded teeth, delayed eruption, v-shaped max, class III
Crouzon Syndrome
(Craniosynostosis) - Answer -Ocluar hypertelorism (far apart)
, Exophthalmia
Normal intelligence
CL + CP
Crowded teeth, delayed eruption, v-shaped max, max def
Pfeiffer Syndrome
(Craniosynostosis) - Answer -Ocular hypertelorism
Exophthalmia
Normal intelligence
Broad thumbs and great toes
Carpenter Syndrome
(Craniosynostosis) - Answer -Acrocephaly (cone)
Soft tissue syndactyly
Congenital heart disease
Intellectual Disability
Hypo-genitalism
Obese
Acrocephaly AKA... - Answer -Oxycephaly
Turricephaly
Achondroplasia
(Dwarfism) - Answer -80% sporatic, mutations, AD
1-20,000 live births
Short limbs, large head
Depressed nasal bridge
Lordotic lumbar spine
Hypopituitarism
(Dwarfism) - Answer -Well proportioned body
Fine, silky hair
Wrinkled atrophic skin
Hypogonadism
Eruption/exfoliation delayed
Malocclusion (small arch)
Mucopolysaccharidosis - Answer -Hunter/Hurler
- all involve some form of dwarfism
Chondroectodermal dysplasia
(Ellis Van Creveld Syndrome)
(Dwarfism) - Answer -Bilateral polydactyly (extra pinky)
Cardiac defects (40-50%)
Chondrodysplasia (bad cartilage)
Hydrotic ED
