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Dysmorphic syndrome
Author :
Jose Samos
Question
A six days old male neonate born of non-consanguineous marriage to a mother multiparous {G9} aged 34 years had bilateral anophthalmos, right auricle and auditory canal agenesis. Two siblings aged 2 and 4mths died due to bronchopneumonia. The present child at birth had APGAR score of 8, 9 with birth weight of 3.856kg. At 2 hrs of age, baby has hypoglycaemia along with ground brown vomiting, abdominal distension. Sepsis profile test {acute phase reactants negative} was negative. There was an acyanotic patent ductus arteriosus defect, hepatomegaly and mild cardiomegaly.
Answers of this discussion
Author :-
tarek kotb
on
14 April 2012
.
Answer :-
_?sepsis with heart failure
Author :-
sree harsha
on
15 April 2012
.
Answer :-
goldenhar syndrome
Author :-
sandun jayasecara
on
16 April 2012
.
Answer :-
Treacher collins xn
Author :-
khuteja fatima
on
16 April 2012
.
Answer :-
BECKWITH WEIDMANN SYNDROME
Author :-
Ghada Abdelaleem
on
16 April 2012
.
Answer :-
Di George Syndrome
Author :-
sarah Ashour
on
16 April 2012
.
Answer :-
VATER SYNDROM
Author :-
tarek kotb
on
16 April 2012
.
Answer :-
trisomy 18
Author :-
ayssar
on
17 April 2012
.
Answer :-
treacher collin syndrom
Author :-
Feizal Waffarn
on
17 April 2012
.
Answer :-
Infant born to mother with Insulin dependent Diabetes {IDM}` with assoc multiple congenital anomalies and cardiomyopathy.
Author :-
Jose Samos
on
18 April 2012
.
Answer :-
This baby presented with multiple structural and organic birth defects: Right microtia with agenesis of auditory canal, bilateral anophtalmia, congenital heart disease consistent by ecocardiogram with transposition of great arteries {ductus-dependent}awaiting cardiosurgical intervention, as well as karyotyping. Radioimaging {ultrasonography} of internal organs apparently normal. Baby is actually 3 months breastfeeding adequately without any complications under constant monitorization and followup.
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