Re: early onset severe IUGR and ambiguous genitalia without any other anomaly

From: art fougner, md (evsono@pipeline.com)
Thu Nov 2 13:36:27 2006


Could be a case of SMith Lemli Opitz ... Just a thought -

Art

At Thu, 2 Nov 2006, JD Stewart,MD wrote: >
>At Thu, 2 Nov 2006, Lalehan Kutlay wrote:
>>
>>Maternal trombocyte count was normal and there is no evidence of
>>thrombophilia WAS THE TESTING ACTUALLY RUN? FAMILY HISTORY/PREGNANCY COURSE MAY MISS CARRIERS>
>
>Baby was quite well in first 36 hours.
>>Autopsy report and the results of second chromosome analysis is not
>>available yet .
>>
>>I've read about paternal monosomies(esp. 7)and minor chromosomal
>>anomalies at 7,13 18 may result in somehow 'hard to explain' IUGR
>>cases.Is this can be the cause. MONOSOMY WOULD HAVE BEEN PICKED UP AS A 45,XY. DO YOU MEAN UNIPARENTAL DISOMY? (BOTH CHROMOSOMES OF PATERNAL OR MATERNAL ORIGIN?)
>YOU MENTIONED THE PLACENTA LOOKED NORMAL..ISLANDS OF MOSAICISM WITHIN
>THE PLACENTA MAY LOOK NORMAL ON U/S AND GROSS EXAM BUT BE QUITE
>DYSFUNCTIONAL AND TAKE UP AN UNEXPECTED DISPROPORTIONATE SHARE OF THE
>PLACENTAL PERFUSION IN A VASCULAR STEAL SITUATION. RECOMMEND SAMPLING
>DIFFERENT SITES AND ADDITIONAL CELL LINE CULTURES IF THIS IS SUSPECTED>
>>>
>--
>JD. Stewart, MD
>MFM up too late all night, every night
>Two places you never want to be the "Great Case of the Week"- the OB ward and the courtroom.
>

--
art fougner, md
"May The Wings of Liberty Never Lose a Feather." - Jack Burton




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