Pierpont syndrome: report of a new patient
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000184
Abstract: Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p.(Tyr446Cys)] has been described… read more here.
Keywords: report new; syndrome report; pierpont syndrome; new patient ... See more keywords
Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096221150637
Abstract: Pierpont syndrome is a rare and recently described multiple congenital anomaly syndrome, classically characterized by global developmental delay, distinctive facial dysmorphic features, and abnormal fat distribution in distal limbs. Only few cases were previously documented.… read more here.
Keywords: presentation; pierpont syndrome; syndrome; arthrogryposis multiplex ... See more keywords