Abnormalities of Face Flashcards
1
Q
Causes of Beaked nose
A
- Crouzon’s Syndrome
- Rubinstein-Taybi Syndrome
- Seckel’s Syndrome
2
Q
Causes of Upturned Nostril
A
- Idiopathic Hypercalcaemia
- Fetal Alcohol / Warfarin Syndromes
- Cornelia de Lange Syndrome
3
Q
Causes of Hypotelorism
A
- Down’s
2. Patau’s
4
Q
Causes of Hypertelorism
A
- Apert’s, Crouzon’s Syndrome
- Orofaciodigital dysostosis, Otopalatodigital syndrome
- Waadenburg’s syn
- Cri-du-chat syn
- 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
5
Q
Causes of Fish mouth
A
- Prader-Willi Syn
- Myotonia Dystrophica (Myopathic face +)
- Cornelia de Lange Syn
- Di George Syn
- Russell-Silver Syn
6
Q
Causes of Gum Hypertropy
A
- Phenytoin effect
- Gingivitis
- Scurvy
- Acute monocytic Leukaemia
- Hereditory gingival fibromatosis
7
Q
Causes of Dysplastic Teeth
A
- Ectodermal dysplasia
- Craniocleidodysostosis
- Ellis-van-Creveld syndrome
- Osteogenesis Imperfecta
- Congenital Syphilis
8
Q
Causes of Teeth Discolouration
A
- Black in iron staining
- Green in Hyperbilirubinaemia
- Brown in poor oral hygiene
9
Q
Causes of Big Tongue
A
A resting tongue that protrudes beyond the teeth
- Congenital Hypothyroidism
- Beckwith Wiederman Syndrome
- MPS
- Pompe’s disease
- Local problems: Haemangioma, Lymphangioma
- Tongue protrusion: Due to small mouth in Down’s
10
Q
Causes of Tongue Fasiculations
A
- SMA
2. Poliomyelitis
11
Q
Causes of Cleft lip and Palate
A
- Syndromes - Patau’s; Orofaciodigital syndrome; Otopalatodigital syndrome; Pierre-Robin syndrome (Cleft palate only)
- Familial
- Maternal drug: Steroid and Phenytoin
- Associated with: Midline defect - Holoprosencephaly - skeletal/ CVS/ CNS/ GIT abnormality
12
Q
Problems of baby with Cleft lip and Palate
A
- FTT
- Aspiration Pneumonia
- Otitis Media and deafness
- Speech - nasal tone
- Dental Mal-occlusion
- Cosmetic
13
Q
Incidence of Cleft lip/ palate
A
Incidence: 0.1%
Recurrence:
1 sib/parent + = 5%
2 sib/parent+ = 10%
14
Q
Steps in examination of Cleft lip/Palate
A
- Local examination - type of cleft, micrognathia, airway obstruction
- Dysmorphic features
- Hand for digital abnormalities
- Spine for midline defects
- CVS
- CNS
- Ear for Otitis Media
- 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
15
Q
Causes of Facial Asymmetry
A
- Hemifacial Hypertrophy
- Hemifacial Atrophy
- Local: Torticollis; Facial nerve palsy: Trauma, oedema
- First Arch Syndrome