Abnormalities of Face Flashcards

1
Q

Causes of Beaked nose

A
  1. Crouzon’s Syndrome
  2. Rubinstein-Taybi Syndrome
  3. Seckel’s Syndrome
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2
Q

Causes of Upturned Nostril

A
  1. Idiopathic Hypercalcaemia
  2. Fetal Alcohol / Warfarin Syndromes
  3. Cornelia de Lange Syndrome
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3
Q

Causes of Hypotelorism

A
  1. Down’s

2. Patau’s

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4
Q

Causes of Hypertelorism

A
  1. Apert’s, Crouzon’s Syndrome
  2. Orofaciodigital dysostosis, Otopalatodigital syndrome
  3. Waadenburg’s syn
  4. Cri-du-chat syn
  5. Craniocleidal dysostosis:
    a) Skull- frontal and parietal bossing, large AF, separated sutures;
    b) Face - Hypoplastic maxilla and jaw, mal-occlusion
    c) Absent Clavicle, Hypermobile shoulders - droop and narrow;
    d) Short, long second metacarpal;
    e) IQ normal and transmitted AD
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5
Q

Causes of Fish mouth

A
  1. Prader-Willi Syn
  2. Myotonia Dystrophica (Myopathic face +)
  3. Cornelia de Lange Syn
  4. Di George Syn
  5. Russell-Silver Syn
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6
Q

Causes of Gum Hypertropy

A
  1. Phenytoin effect
  2. Gingivitis
  3. Scurvy
  4. Acute monocytic Leukaemia
  5. Hereditory gingival fibromatosis
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7
Q

Causes of Dysplastic Teeth

A
  1. Ectodermal dysplasia
  2. Craniocleidodysostosis
  3. Ellis-van-Creveld syndrome
  4. Osteogenesis Imperfecta
  5. Congenital Syphilis
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8
Q

Causes of Teeth Discolouration

A
  1. Black in iron staining
  2. Green in Hyperbilirubinaemia
  3. Brown in poor oral hygiene
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9
Q

Causes of Big Tongue

A

A resting tongue that protrudes beyond the teeth

  1. Congenital Hypothyroidism
  2. Beckwith Wiederman Syndrome
  3. MPS
  4. Pompe’s disease
  5. Local problems: Haemangioma, Lymphangioma
  6. Tongue protrusion: Due to small mouth in Down’s
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10
Q

Causes of Tongue Fasiculations

A
  1. SMA

2. Poliomyelitis

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11
Q

Causes of Cleft lip and Palate

A
  1. Syndromes - Patau’s; Orofaciodigital syndrome; Otopalatodigital syndrome; Pierre-Robin syndrome (Cleft palate only)
  2. Familial
  3. Maternal drug: Steroid and Phenytoin
  4. Associated with: Midline defect - Holoprosencephaly - skeletal/ CVS/ CNS/ GIT abnormality
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12
Q

Problems of baby with Cleft lip and Palate

A
  1. FTT
  2. Aspiration Pneumonia
  3. Otitis Media and deafness
  4. Speech - nasal tone
  5. Dental Mal-occlusion
  6. Cosmetic
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13
Q

Incidence of Cleft lip/ palate

A

Incidence: 0.1%
Recurrence:
1 sib/parent + = 5%
2 sib/parent+ = 10%

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14
Q

Steps in examination of Cleft lip/Palate

A
  1. Local examination - type of cleft, micrognathia, airway obstruction
  2. Dysmorphic features
  3. Hand for digital abnormalities
  4. Spine for midline defects
  5. CVS
  6. CNS
  7. Ear for Otitis Media
  8. Eye for optic atophy in septo-optic dysplasia;
    Pendular Nystagmus;
    Visual field defect;
    Hypothalamic lesion;
    Hypopituitarism with hormone defiency;
    CT scan showed agenesis of septum pellucidum, occasionally, hormone hypersecretion and causes gigantism and precocious puberty
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15
Q

Causes of Facial Asymmetry

A
  1. Hemifacial Hypertrophy
  2. Hemifacial Atrophy
  3. Local: Torticollis; Facial nerve palsy: Trauma, oedema
  4. First Arch Syndrome
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