ABPD - SYNDROMES & DISEASES
EXAM QUESTIONS AND ANSWERS
Hallermann-Streiff Syndrome
(Dwarfism) - ANSWER-Dyscephaly
Thin, beaked nose
Mand hypoplasia
Hypotrichosis
Small palpebral fissures
Cateracts
High palatal vault, hypodontia, natal teeth, over-retained primary, supernumerary
Turner Syndrome
(Dwarfism) - ANSWER-NCIS LA lady
Missing X chrom (XO, females only)
45 chromosomes (instead of 46)
Normal IQ, sterile
Coarc Aorta
Webbed neck
Enamel Hypoplasia
Osteogenesis Imperfecta
(Dwarfism) - ANSWER-Type 1 (most common, mildest), AD
Fractured bones, hypermobile joints
Hearing loss
Blue sclera
Dentinogenesis Imperfecta
Often on Bisphosphonate tx
Hypothyroidism
(Dwarfism) - ANSWER-Dysfunctional thyroid or tumor
Dry skin
Swollen face/extremities
Bradycardia + hypothermia
Delayed/failure to erupt
Cretinism
(Dwarfism) - ANSWER-Hypothyroidism in infancy
Klinefelter Syndrome - ANSWER-XXY (males w/ female characteristics)
Hypogonadism, Low T, often sterile
Lesch Nyhan Syndrome - ANSWER-X-linked recessive (boys)
Too much uric acid
Neurologic dysfunction w/ behavior issues
Aggressive, self-mutilating
CP (spastic)
, Williams Syndrome - ANSWER-Excessively Friendly, Elf-like (upturned nose)
Wide mouth, small chin
Learning Disability
Small, widely spaced teeth
Small, low wt
Heart defect common
DiGeorge Syndrome
(Velocardiofacial Syndrome) - ANSWER-Heart defects
Poor immune system
Cleft Palate (69%)
Nasally voice
Developmentally Delayed - global
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
EXAM QUESTIONS AND ANSWERS
Hallermann-Streiff Syndrome
(Dwarfism) - ANSWER-Dyscephaly
Thin, beaked nose
Mand hypoplasia
Hypotrichosis
Small palpebral fissures
Cateracts
High palatal vault, hypodontia, natal teeth, over-retained primary, supernumerary
Turner Syndrome
(Dwarfism) - ANSWER-NCIS LA lady
Missing X chrom (XO, females only)
45 chromosomes (instead of 46)
Normal IQ, sterile
Coarc Aorta
Webbed neck
Enamel Hypoplasia
Osteogenesis Imperfecta
(Dwarfism) - ANSWER-Type 1 (most common, mildest), AD
Fractured bones, hypermobile joints
Hearing loss
Blue sclera
Dentinogenesis Imperfecta
Often on Bisphosphonate tx
Hypothyroidism
(Dwarfism) - ANSWER-Dysfunctional thyroid or tumor
Dry skin
Swollen face/extremities
Bradycardia + hypothermia
Delayed/failure to erupt
Cretinism
(Dwarfism) - ANSWER-Hypothyroidism in infancy
Klinefelter Syndrome - ANSWER-XXY (males w/ female characteristics)
Hypogonadism, Low T, often sterile
Lesch Nyhan Syndrome - ANSWER-X-linked recessive (boys)
Too much uric acid
Neurologic dysfunction w/ behavior issues
Aggressive, self-mutilating
CP (spastic)
, Williams Syndrome - ANSWER-Excessively Friendly, Elf-like (upturned nose)
Wide mouth, small chin
Learning Disability
Small, widely spaced teeth
Small, low wt
Heart defect common
DiGeorge Syndrome
(Velocardiofacial Syndrome) - ANSWER-Heart defects
Poor immune system
Cleft Palate (69%)
Nasally voice
Developmentally Delayed - global
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
