This document discusses six cases of children with abnormalities found on growth charts. It provides details on each case, including measurements and potential causes of abnormalities such as genetic disorders, malnutrition, hormonal imbalances, and chronic illnesses. Common conditions mentioned include Down syndrome, hypothyroidism, Prader-Willi syndrome, Turner syndrome, and mucopolysaccharidosis.

1. Growth chart

13. abnormalities
• Case 1
• Ali 4 months old with a weight
of 4 kg and height of 62 cm , h.c
42 cm.

14. Weight below 5 th centile

15. causes
• - under nutrition
• -hypothyroidism
• -iron deficiency
• -chronic systemic disease ( GIT ,
RESP, RENAL ,CARDIAC )
• -INBORN ERROR OF
METABOLISM

16. Marasmus
• Marasmus is a
form of
malnutrition. It
happens when
the intake of
nutrients and
energy is too low
for a person's
needs.

17. Hypothyroid

18. congenital hypothyroidism?
Congenital hypothyroidism (CHT) is a
condition resulting from an absent or
under-developed thyroid gland
(dysgenesis)

19. symptoms
• sleepy
• difficult to feed
• prolonged jaundice
• constipation
• cold extremities
• poor growth

20. Untreated, CHT can result in impaired brain
development

21. Case 2
• Lulu 6 months old with a weight
of 10 kg ,
• Ht 65 cm , Hc 42 cm

22. Weight above 95th centile

23. causes
• Endocrine causes :
• - hypothyroid
• - Excess cortisol
production ( cushing disease )
• Genetic disorders :
• - Down syndrome
• - Prader willi syndrome
• Over feeding

24. Down
syndrom

25. • Down syndrome is a genetic disorder caused when
abnormal cell division results in an extra full or partial
copy of chromosome 21
• Trisomy 21

26. features
• Flattened face
• Small head
• Short neck
• Protruding tongue
• Upward slanting eye lids (palpebral fissures)
• Unusually shaped or small ears
• Poor muscle tone
• Broad, short hands with a single crease in the
palm
• Relatively short fingers and small hands and
feet
• Excessive flexibility
• Tiny white spots on the colored part (iris) of
the eye called Brushfield's spots
• Short height

27. Cushing’s
syndrom

28. Praderwilli
syndrom

29. ?
• Prader-Willi syndrome is
caused by a genetic defect on
chromosome number 15
• The symptoms of Prader-Willi
syndrome are likely due to
dysfunction of the hypothalamus.

30. symptoms
• Early Life
• hypotonia or “floppy”.
• weak cry and a poor suck reflex
• delayed Motor milestones.

31. • Childhood
• Unregulated appetite and easy
weight gain
• IQs ranging from low normal to
moderate intellectual disability
• growth hormone
deficiency/short stature
• small hands and feet, scoliosis.

32. Case 3
• Fajer 5 years old with weight 23
kg , height 125 cm , Hc 53 cm

33. Height > 95th centile

34. causes
• Obesity
• Excess GH production
• Hyperthyroid
• Syndromes
• - Klinefelter $
• - marfan $

35. Klinefelter $

36. Signs

37. Marfan $

38. Marfan $
genetic disorder of
the connective tissue
autosomal dominant

39. symptoms
• Tall .
• Disproportionately long arms,
legs and fingers
• A breastbone that protrudes
outward or dips inward
• A high, arched palate and
crowded teeth
• Heart murmurs
• An abnormally curved spine
• Flat feet

41. Case 4
• Fatma 7 years old with
• Weight 25 kg
• Ht 105 cm

42. Ht < 5th centile

43. causes
• GH deficiency
• Hypothyroid
• Chronic anaemia
• Chronic systemic disease ( GIT ,
Renal , Resp, CVS ).
• Rickets
• Chromosomal disorder ( turner $
)

44. Turner $

45. • Turner $

47. • Turner syndrome, a condition that affects only
females, results when one of the X chromosomes
(sex chromosomes) is missing or partially missing

48. symptoms
•
Low-set ears
• Broad chest with widely spaced nipples
• Arms that turn outward at the elbows
• Fingernails and toenails that are narrow
and turned upward
• Swelling of the hands and feet,
especially at birth
• Slowed growth
• Cardiac defects
• Low hairline at the back of the head
• Short fingers and toes

49. Case 5
• Mina 6 months old boy with
weight 7 kg , ht 65 cm
• Hc 49 cm

50. ?
•HC > 95th centile

51. causes
• benign familial macrocephaly.
• Rickets
• Hydrocephalus – obstructive or communicating

52. • Genetic
• Autism spectrum disorder
• Bone dysplasia – achrondroplasia
• Fragile X –
• Neurocutaneous disorders –
neurofibromatosis, tuberous sclerosis
• Storage diseases
• ( mucopolysacharidosis )

53. hydrocephalus

54. neurofibromatosis

56. neurofibromatosis
• Neurofibromatosis type
1 (NF1) and type 2
(NF2) are
neurocutaneous
disorders inherited as
autosomal dominant
genetic syndromes

57. symptoms
• Presence of (café-au-lait) on the skin.
• Appearance of two or more neurofibromas (pea-
sized bumps
• freckles under the armpits or in the groin areas.

58. mucopolysaccharidosis

59. • The mucopolysaccharidoses (MPS) are lysosomal
storage disorders
• All of the MPS are autosomal recessive disorders,
with the exception of MPS II, which is X linked.

60. symptoms
• Hepatosplenomegaly
• Corneal clouding
• Cardiac involvement, valve disease
• Skeletal dysplasia
• Growth delay
• Profound neurological involvement (in the severe form
only)
• Macrocephaly

61. CASE 6
• ALI 1.5 YEARS OLD BOY
• WEIGHT 13 KG
• HEIGHT 85 CM
• HC 45 CM

62. • H.C < 5TH centile

63. CAUSES
• CRANIOSYNOSTOSIS
• Prenatal insult
• - TORCH infection
• - maternal drugs or alcohol abuse.
• Chromosomal abnormalities
• trisomy 18 , trisomy 13