Syndromes ddx with certain clinical manifestation Flashcards
Salivary gland aplasia
- Treacher Collins syndrome (mandibulofacial dysostosis)
- Hemifacial microsomia
- Lacrimo-auriculo-dento-digital (LADD) syndrome
Generalized gingival fibromatosis
- Amelogenesis Imperfecta-nephrocalcinosis syndrome, enamel- renal syndrome (gingival fibromatosis, delayed tooth eruption, hypoplastic enamel, microdontia. intrapulpal calcifications, root
dilaceration) - Byars-Jurkiewicz syndrome (gingival fibromatosis, hypertrichosis, giant fibroadenomas of the breast. and kyphosis)
- Cross syndrome (gingival fibromatosis, microphthalmia, mental retardation. athetosis, and hypopigmentation)
- Gingival fibromatosis and growth hormone deficiency
- Gingival fibromatosis. hypertrichosis. epilepsy, and mental retardation syndrome
- Gingival fibromatosis With craniofacial dysmorphisrn
- Jones-Hartsfield syndrome (gingival fibromatosis and sensorineu-
rat hearing loss) - Zimmermann-Laband syndrome (gingival fibromatosis; ear, nose, bone, and nail defects; and hepatosplenomegaly)
- Murray syndrome (gingival fibromatosis with juvenile hyaline fibromatosis)
- Prune-belly syndrome (hypoplastic abdominal muscle, cryptorchidism, obstructive nephropathy, and gingival
fibromatosis) - Ramon syndrome: oculodental syndrome—Rutherford type (gingival fibromatosis, hypertrichosis. cherubism, mental and somatic retardation. and epilepsy)
- Rutherford syndrome (gingival fibromatosis and corneal dystrophy)
PAPULAR GINGIVAL FIBROMATOSIS (PAPULOSIS)
- Acanthosis nigricans
- Cowden syndrome (multiple hamartoma syndrome)
- Tuberous sclerosis
Pierre Robin sequence
Cleft palate, mandibular micrognathia, glossoptosis
Associated with
- Stickler syndrome
- Digeorge (velocardiofacial) syndrome - CATCH 22
Median cleft of upper lip
- Oral-facial-digital syndromes
- Ellis-van Creveld syndrome
Lateral facial cleft
□ Mandibulofacial dysostosis
□ Oculo-auriculo-vertebral spectrum (hemifacial microsomia)
□ Nager acrofacial dysostosis
□ Amniotic rupture sequence
Paramedian lip pit
- Van de woude
- Kabuki
- Popliteal pterygium syndrome
Condylar hypoplasia
Congenital = often associated with head and neck syndromes
○ Mandibulofacial dysostosis (Treacher Collin)
○ Oculoauriculovertebral syndrome (Goldenhar syndrome)
○ Hemifacial microsomia
Hemihyperplasia
- Beckwith-Wiedemann syndrome
- Neurofibromatosis
- Klippel-Trenaunay-Weber syndrome
- Proteus syndrome
- McCune-Albright
- Epidermal nevus
- Triploid/diploid mixoploidy
- Larger-Giedion
- Multiple exostoses
- Mafucci
- Ollier
- Segmental odontomaxillary dysplasia
en coup de sabre” - strike of sword
- Localized scleroderma (morphea)
- Parry Romberg
Coloboma
- Treacher-Collins (TCOF1)
- Otodental syndrome (FGF3)
- Regional odontodysplasia
Beaten-metal pattern
- Crouzon
- Apert
- Hypophosphatasia
Wormian bone
- Cleidocranial dysplasia
- Osteogenesis imperfecta type I
Frontal bossing
- Gorlin syndrome / Nevoid BCC
- Autosomal recessive infantile osteopetrosis (malignant type)
- Congenital syphilis
Saddle nose
- Congenital syphillis
- Cocaine snorting
- Granulomatosis with polyangiitis
