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Paeds > Abnormality of hand > Flashcards

Abnormality of hand Flashcards

1
Q

Causes of Polydactyly

A
  1. Pre- axial - Acrocephalopolysyndactyly syndrome eg. Noack, Carpenter, Oro-facial- digital syndrome
  2. Post- axial - Ellis Van Creveld syndrome; Lawrence Moon Biedl syndrome; Trisomy;
    Associated with MR, median cleft lip, hydrocephalus and polycystic kidneys
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2
Q

Steps in examination of Polydactyly

A
  1. Examine the hand (Pre or post axial Polydactyly, syndactyly, abnormal shape of fingers, nails and simian crease
  2. Look for short stature in Ellis Van Creveld, Lawrence syndrome and obesity
  3. Abnormal head shape, dysmorphic features and alopecia
  4. Chest- Long narrow in Juene’s syndrome
  5. Abdo ( polycystic kidneys, infantile genitalia in LaweranceMB syndrome
  6. Assess mentality
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3
Q

Causes of Clinodactyly

A
  1. Down’s syndrome.
  2. Russel Silver syndrome (Dwarfism+ Triangular face + body asymmetry
  3. Isolated - AD
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4
Q

Causes of Brachydactyly

A
  1. Down’s syndrome
  2. Rubinstein Taybi syndrome (MD + Broad thumbs and toe + odd face + eye: cataract, ptosis, coloboma
  3. Turner’s syndrome
  4. Pseudohypoparathyroidism
  5. Russel- silver syndrome
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5
Q

Causes of Syndactyly

A
  1. Acrocephalosyndactyly syndrome (Apert, Carpenter, Pfeiffer syndrome)
  2. Poland syndrome
  3. Occulodentodigital syndrome
  4. De-Lange syndrome
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6
Q

Steps in examination

A
  1. Examine the hand
  2. Examine the head for size, shape, bony ridge over suture lines, fontanelles, protosis
  3. Examine teeth (Aperts)
  4. Look for absent pectoralis major (Poland’s syndrome)
  5. Fundi for optic atrophy in craniosynostosis
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7
Q

Causes of big thumbs

A
  1. Rubinstein Taybi Syndrome
  2. Pfeiffer syndrome
  3. Noack syndrome
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8
Q

Causse of Triphalangeal Thumb

A
  1. Fetal Hydantoin syndrome
  2. Holt- Oram syndrome
  3. AASE syndrome ( anemia with some joint and skeletal deformities)
  4. Diamond Black-Fan syndrome (congenital hypoplastic anaemia)
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9
Q

Causes of short metacarpal

A
  1. Pseudohypoparathyroidism
  2. Turner’s syndrome
  3. Russel silver syndrome
  4. Down’s syndrome
  5. MPS
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10
Q

Causes of Dactylitis

A
  1. Sickle cell disease
  2. TB
  3. JIA
  4. Infection
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11
Q

Causes of Radial defect

A
  1. Fanconi syndrome
  2. Thrombocytopenia-absent Radii syndrome (TAR syndrome) - 1/3 with congenital heart condition
  3. Trisomy Edwards 18 syndrome
  4. Associated with craniosynostosis
  5. VATER syndrome
  6. Holt- Oram syndrome
  7. AASE syndrome
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12
Q

Steps in examination

A
  1. Look for short stature, hirsutism, abnormal head shape, and dysmorphic face
  2. Hands for absent thumb, trisomy hands, triphalangeal thumb
  3. Skin for petechiae, pallor, pigmentation
  4. CVS - ASD
  5. Mental retardation
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13
Q

Causes of Hyperextensibility of joints

A
  1. Passive dorsiflexion and hyperextension of the fifth MCP joint beyond 90° 1 1
  2. Passive apposition of the thumb to the flexor aspect of the forearm 1 1
  3. Passive hyperextension of the elbow beyond 10° 1 1
  4. Passive hyperextension of the knee beyond 10° 1 1
  5. Active forward flexion of the trunk with the knees fully extended so that the palms of the hands rest flat on the floor 1
    TOTAL > 4 / 9 is considered hypermobile
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14
Q

Causes of subcutaneous Calcifications

A
  1. Pseudohypoparathyroidism
  2. Dermatomyositis, Scleroderma
  3. Ehler Danlos syndrome
  4. Myositis ossificans progressive
  5. Cysticerosis
  6. Hypercalcaemia –> metastatic calcification
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15
Q

Acrocephalosyndactyly

A

Apert’s
1. AD, Abnormal face with proptosis, strabismus, cleft palate, congenital heart disease, anal atresia, severe syndactyly

Pfeiffer

  1. AD
  2. Marked broad and short thumb and toes
  3. Marked syndactyly
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16
Q

Acrocephalopolysyndactyly

A

Noack

  1. AD
  2. Mark broad and short thumb and toes
  3. Enlarged thumb and toes

Carpenter

  1. AR
  2. MD
  3. Brachydactyly
17
Q

Polland syndrome

A
  1. Absent pectoralis minor and major; 75% on the right.
  2. Ipsilateral syndactyly, brachydactyly, occ with sprengel shoulder;
  3. Renal abnormality with hemivertebra
18
Q

Lawrence Moon Biedl syndrome

A
  1. AR with variable penetrance and expressivity with failure of pituitary gonadotrophin stimulation
  2. Features: Obesity, short statue, MD, polydactyly, hypogonadism (in 42% with uni/bilateral undesended testis)
  3. Retinitis pigmentosa
  4. Male > Female
19
Q

Oto-palato-digital syndrome

A
  1. Conductive deafness; Cleft palate, short, broad distal phalanges of toes and thumb, small nail, syndactyly, fusion of 3rd, 4th and 5th MCP
  2. Short stature
  3. Skeletal abnormality (pes excavatum, limit elbow extension, skull - frontal and occipital bossing, facial hypertelorism, no frontal and splenoid sinus, SXR - thick frontal and basal bones, spine - neural arch fusion defect, small iliac crest
  4. Mental retardation
20
Q

Orofacial digital syndrome

A
  1. Cleft lip and palate, enamel hypoplasia
  2. Facial - frontal bossing, hypertelorism, flat nose
  3. Digital - Syndactyly, clinodactyly, polydactyly, all are symmetrical
  4. MR
  5. Hydrocephalus, seizure, brain malformation (20% cases)
  6. Skeletal - Metaphyseal rarefaction
  7. Skin - alopecia, seborrhoeic skin
  8. Polycystic kidney
  9. Male> female (2:1)
21
Q

Holt Oram syndrome

A

AD with variable expression;
Features:
1. CVS: ASD, VSD, cardiac arrhythmia, occ PDA, PS;
2. Skeletal - defect of upper limbs of all kind (triphalangeal thumb, absent thumb, phocomelia, syndactyly, absent radius, defect of shoulder girdle: narrow shoulder. Occ vertebral abnormality

22
Q

AASE syndrome

A
  1. Radial defect, Triphalangeal thumb
  2. Congenital anaemia
  3. Cardiac - VSD
  4. Hepatosplenomegaly
23
Q

Ehler Danlos syndrome

A

Familial / AD
Features:
1. Slim, short and kyphoscoliosis
2. Skin - cutaneous hyperelasticity, fragile skin and blood vessels – easy bruise, atrophy scar and pseudotumors
3. Face: broad nasal bridge with hypertelorism and epicathic folds
4. Dental: Small, irregular or missing teeth
5. Skeletal: Delayed ossification, habitual joint dislocation, pes plancus, Haemarthrosis
6. Delayed development

24
Q

VATERL syndrome

A

“VACTERL” syndrome

  1. Vertebral anomaly
  2. Anal atresia
  3. Tracheal oesophageal fistula
  4. Oesophageal atresia
  5. Renal abnormality
  6. Cardiac disease
  7. Limb abnormality

Paeds (53 decks)

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