ABPD - SYNDROMES & DISEASES
EXAM QUESTIONS AND ANSWERS
Cleft Lip & Palate Incidence - Correct Answers -1 in 700 (same as downs, neural tube)
CL - is less, 20%
CP - 30%
CL+CP - 50%
Pierre Robin Sequence - Correct Answers -Glossoptosis, micrognathia, cleft palate &
15-25% have heart disease.
Mand growth can progress normally.
Mandibulofacial Dysostosis
(Treacher Collins) - Correct Answers -*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 - Correct Answers -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 - Correct Answers -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) - Correct Answers -Syndactyly
Turribrachycephaly (point)
, Ocular hypertelorism (far apart)
Cleft Palate (30%)
Intellectual disability
Crowded teeth, delayed eruption, v-shaped max, class III
Crouzon Syndrome
(Craniosynostosis) - Correct Answers -Ocluar hypertelorism (far apart)
Exophthalmia
Normal intelligence
CL + CP
Crowded teeth, delayed eruption, v-shaped max, max def
Pfeiffer Syndrome
(Craniosynostosis) - Correct Answers -Ocular hypertelorism
Exophthalmia
Normal intelligence
Broad thumbs and great toes
Carpenter Syndrome
(Craniosynostosis) - Correct Answers -Acrocephaly (cone)
Soft tissue syndactyly
Congenital heart disease
Intellectual Disability
Hypo-genitalism
Obese
Acrocephaly AKA... - Correct Answers -Oxycephaly
Turricephaly
Achondroplasia
(Dwarfism) - Correct Answers -80% sporatic, mutations, AD
1-20,000 live births
Short limbs, large head
Depressed nasal bridge
Lordotic lumbar spine
Hypopituitarism
(Dwarfism) - Correct Answers -Well proportioned body
Fine, silky hair
Wrinkled atrophic skin
Hypogonadism
Eruption/exfoliation delayed
Malocclusion (small arch)
Mucopolysaccharidosis - Correct Answers -Hunter/Hurler
- all involve some form of dwarfism
EXAM QUESTIONS AND ANSWERS
Cleft Lip & Palate Incidence - Correct Answers -1 in 700 (same as downs, neural tube)
CL - is less, 20%
CP - 30%
CL+CP - 50%
Pierre Robin Sequence - Correct Answers -Glossoptosis, micrognathia, cleft palate &
15-25% have heart disease.
Mand growth can progress normally.
Mandibulofacial Dysostosis
(Treacher Collins) - Correct Answers -*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 - Correct Answers -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 - Correct Answers -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) - Correct Answers -Syndactyly
Turribrachycephaly (point)
, Ocular hypertelorism (far apart)
Cleft Palate (30%)
Intellectual disability
Crowded teeth, delayed eruption, v-shaped max, class III
Crouzon Syndrome
(Craniosynostosis) - Correct Answers -Ocluar hypertelorism (far apart)
Exophthalmia
Normal intelligence
CL + CP
Crowded teeth, delayed eruption, v-shaped max, max def
Pfeiffer Syndrome
(Craniosynostosis) - Correct Answers -Ocular hypertelorism
Exophthalmia
Normal intelligence
Broad thumbs and great toes
Carpenter Syndrome
(Craniosynostosis) - Correct Answers -Acrocephaly (cone)
Soft tissue syndactyly
Congenital heart disease
Intellectual Disability
Hypo-genitalism
Obese
Acrocephaly AKA... - Correct Answers -Oxycephaly
Turricephaly
Achondroplasia
(Dwarfism) - Correct Answers -80% sporatic, mutations, AD
1-20,000 live births
Short limbs, large head
Depressed nasal bridge
Lordotic lumbar spine
Hypopituitarism
(Dwarfism) - Correct Answers -Well proportioned body
Fine, silky hair
Wrinkled atrophic skin
Hypogonadism
Eruption/exfoliation delayed
Malocclusion (small arch)
Mucopolysaccharidosis - Correct Answers -Hunter/Hurler
- all involve some form of dwarfism
