3. History
Birth history : NVD at distt. Hospital durg
on 26/04/08 birth wt 1.300kg
-baby cried immediately after
birth.
-no history of birth asphyxia
4. History
FAMILY HISTORY: mother received 2 T.T dose
- -no h/o any medicine or drug intake
during pregnancy
-no h/o seizures,TB,DM,HT
-no h/o chronic illness in father
-no history of consanguinity
-no h/o abortion/stillbirth
10. FINALLY
Treated as Septicemia
Diagnosed-IUGRwith septicemia with B/L
CTEV r/o syndrome
advised for continuous follow
up
11. at present
Child is 7 & ½ mths old
physical findings-
-beaked nose
-high arched palate
-low set ears
-receding forehead
-protruding eyes
-B/L CTEV of feet
-jaw hypoplasia
-wt is 2.950kg{<3rd percentile}
-length 50 cm{< 3rd percentile}
-OFC 31.5 cm {< 3rd percentile}
-CC 32.5cm
12.
13.
14. at present
Babygram[wholebody]
no lytic or sclerotic iesion seen in skull
vault
hypoplastic mandible
internal rotation of both feet
no lytic or sclerotic lesion involving
long bone
rest thorax,lung fields normal
25. Clinical description
IUGR
proportionate short stature
microcephaly
mean OFC is -9SD or range -4 to-14SD
bird headed profile
receding forehead
large eyes
beak like protrusion of nose
narrow face
receding lower jaw
micrognathia
mental retardation in 50%
26. Other associated features
Premature closure of cranial sutures
Large eyes
Antimongloid slant of palpaberal fissures
High arched palate, cleft palate
Dysplastic ears
Cryptorchidism,clitoromegaly
Hirsutism
Crowded teeth with malocculsion,enamel hypoplasia
Agenesis of corpus callosum
25% have aplastic anemia or malignancies
27. Diagnostic method
Diagnosis depends on recognition of
clinical finding
X ray features
retarded bone age
frequent dysplasia
dislocation of head of radius
28. Etiology
mutation in ATR gene mainly.
SCKL 1 gene on human chrmosome 3q i.e. ATR
gene.
SCKL 2 mapped on chromosome 18p &14q showing
genetic heterogeneity.
SCKL 3 study shows its association but needs
further studies.
29. Genetic counseling
Risk of recurrence is 25% for couple having first child
with seckle syndrome
Multiple occurrence in sibling with increase of parental
consanguinity support an autosomal recessive
inheritance
Counseling for other members is reassuring b/s of low
frequency of disease unless couple is consanguineous.
30. Antenatal diagnosis
First child with seckle then suspicion of other baby
having seckle by
USG
IUGR with microcephaly in 2nd trimester
early molecular antenatal diagnosis if first child
with seckle and familial mutation have been
identified
32. management
Hematological abnormality
Anemia, pancytopenia, AML- medical
treatment
Mental retardation- if severe family
should be helped for social problems