ORIGINAL ARTICLESShort stature, pulmonary hypertension, sclerodactyly-like involvement and dysmorphic appearance: a newly described syndrome?Lemire, Edmond G.a b; Petch, PatriciaaAuthor Information aDivision of Medical Genetics, Department of Pediatrics, Royal University Hospital bUniversity of Saskatchewan, Saskatoon, SK, Canada Correspondence and requests for reprints to Dr Edmond G. Lemire, Division of Medical Genetics, Room 515, Ellis Hall, Royal University Hospital, Saskatoon, SK, Canada S7N 0W8 Tel: +1 306 655 1692; fax: +1 306 655 1736; e-mail: email@example.com Received 13 Jan 2003 Accepted 24 May 2004 Clinical Dysmorphology: October 2004 - Volume 13 - Issue 4 - p 227-230 Buy Abstract We report a 21-year-old woman who has moderate to severe pulmonary hypertension, short stature, dysmorphic appearance, lipodystrophy and sclerodactyly-like involvement of her extremities. Cognitive development is in the low-average range. Various diagnoses have been suggested over the years, but none seem to fit her clinical presentation exactly. We suggest that she may have a previously undescribed connective tissue disorder with primary pulmonary involvement. © 2004 Lippincott Williams & Wilkins, Inc.