Re: 'Winter' Syndrome

From: Geffrey H. Klein, MD (gklein@bcm.tmc.edu)
Wed Nov 12 06:53:41 1997


On 11/12/97, Tamizian.obsgyn wrote this:

Q> Dear Listmembers, Q> Q> One of my colleagues has asked me to look up information on the features Q> and management options for 'Winter' syndrome which I gather inncludes a Q> rudimentary vagina, renal abnormalities among other features (I don't Q> know what they are). He has got a 15 year old patient under his care when Q> she was admitted with as a gynaecological emergency with a ruptured Q> corpus luteum and subsequently the above was suspected. Thank you for any Q> help you can give us.

Perhaps what you are looking for is at the following URL:

http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?247990

MacDermot and Winter (1989) described a seemingly 'new' syndrome with facial anomalies, microcephaly, hypoplastic genitalia, and failure of psychomotor development. The 2 brothers were from a consanguineous Moslem family. They showed prenatal onset of growth deficiency and had convulsions from birth. Atypical anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and wide-spaced nipples. Death occurred at 21 days and 7 months, respectively. Postmortem examination showed dilated cerebral ventricles and hydronephrosis.

If this is not what you are looking for try searching the Online Mendelian Inheritance in Man database at:

http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html

---------------------------------- Geffrey H. Klein, MD ---------------------------------- gklein@bcm.tmc.edu

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