Abnormalities of Face

Question 1

Causes of Beaked nose

Answer 1

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

Question 2

Causes of Upturned Nostril

Answer 2

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

Question 3

Causes of Hypotelorism

Answer 3

1. Down’s

2. Patau’s

Question 4

Causes of Hypertelorism

Answer 4

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

Question 5

Causes of Fish mouth

Answer 5

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

Question 6

Causes of Gum Hypertropy

Answer 6

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

Question 7

Causes of Dysplastic Teeth

Answer 7

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

Question 8

Causes of Teeth Discolouration

Answer 8

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

Question 9

Causes of Big Tongue

Answer 9

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

Question 10

Causes of Tongue Fasiculations

Answer 10

1. SMA

2. Poliomyelitis

Question 11

Causes of Cleft lip and Palate

Answer 11

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

Question 12

Problems of baby with Cleft lip and Palate

Answer 12

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

Question 13

Incidence of Cleft lip/ palate

Answer 13

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

Question 14

Steps in examination of Cleft lip/Palate

Answer 14

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

Question 15

Causes of Facial Asymmetry

Answer 15

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