title: Short stature, pulmonary hypertension, sclerodactyly-like involvement and dysmorphic appearance: a newly described syndrome?
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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Royal University Hospital University of Saskatchewan, Saskatoon, SK, Canada.
authors.forename: Edmond G
authors.initials: EG
authors.lastname: Lemire
authors.forename: Patricia
authors.initials: P
authors.lastname: Petch
mesh_terms: D000293:Adolescent; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D006976:Hypertension, Pulmonary / Q000503:physiopathology*; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome