Clinical case 5

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INSTRUCTIONS.  
Read Case 5: A newborn boy with seizures and microcephaly.

A male newborn developed seizures on his first day of life. The pregnancy and delivery were unremarkable. 

On examination, his length and weight were borderline small for gestational age, and his head circumference was three standard deviations below the mean. Major anomalies noted included cleft palate, hypospadias, and cryptorchidism. There was complete cutaneous syndactyly of his 2nd and 3rd toes bilaterally.
 
On neurological exam, mild hypotonia was noted. One episode of seizure activity was seen, which lasted less than a minute. The remainder of his neurological exam was normal.
 
Two blood glucose determinations did not show hypoglycemia.
 
His parents reported losing another son in the neonatal period with a similar pattern of anomalies. The cause of death was not determined. They have a third son who is normal.
You had just gotten started with the case when you were interrupted. You had enough time to save the Computable Patient Summary Text String shown below.

d=1 &u=f0&o=499999 &u=f158&o=399999 &u=c0036572&o=13&i=1&t=c
  1. Copy it, open SimulConsult, and go to Load on the black navigation bar.
  2. Paste it into the box under the words "computable patient summary text string".
  3. Click the Load Patient button.
Note: The PDF Summary that you previously saved on a previous case can be imported in the same way using the PDF file tab.

Finish entering the findings in the usual way.
3.Choose diagnoses. Record your impression of the differential diagnosis (using or ignoring the software results as you deem appropriate) by ranking at least 1 and up to 3 diagnoses from the list provided. You get the most credit for having the correct diagnosis as rank #1, but you also get some credit for having it in other positions.  (One selection allowed per column)(Required.)
Rank 1
Rank 2
Rank 3
Acrocardiofacial syndrome
Allan-Herndon-Dudley syndrome
Ankyloblepharon, ectodermal dysplasia, clefting syndrome
Bamroth-Lazarus hypothyroidism, athyroidal, with spiky hair and cleft palate
CHARGE syndrome
Chromosome 22q11.2 deletion syndrome
Chromosome 4q deletion syndrome
Cleft palate, isolated
Desmosterolosis
Emanuel syndrome
Epileptic encephalopathy, early infantile, KCNQ2-related
FG syndrome
Hartsfield syndrome
LAMB1-related lissencephaly
Lathosterolosis
Marden-Walker syndrome
Meckel syndrome
Mosaic variegated aneuploidy syndrome
Multiple pterygium syndrome
Muscular dystrophy-dystroglycanopathy
Noonan syndrome
Pallister-Hall syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Squalene synthase deficiency
Tetraamelia syndrome
Woods-Black-Norbury immunoneurologic disorder
Zellweger syndrome
4.Any comments?