Short stature, pulmonary hypertension, sclerodactyly-like involvement and dysmorphic appearance: a newly described syndrome?
作者： Edmond G. Lemire , Patricia Petch
DOI: 10.1097/00019605-200410000-00005
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摘要: 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 years, but none seem fit clinical presentation exactly. suggest that she may previously undescribed connective tissue disorder with primary involvement.
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