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Re: 'Winter' SyndromeFrom: 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 -- ---------------------------------- http://members.aol.com/gklein01/geff.html List-owner OB-GYN-L co-moderator sci.med.obgyn Advisory Board Chairman OBGYN.net http://www.obgyn.net/medical.htm Office: 2200 Nasa Rd #1 Houston, Texas 77058 Tel 713 741 2273 x2628
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