Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.

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. We report a case of a term male neonate admitted to the neonatal intensive care unit because of feeding difficulties. Intrauterine growth restriction, microcephaly, and bilateral equinovarus foot were diagnosed in the second trimester, and prenatal array comparative genomic hybridization showed no abnormality. Physical examination revealed bilateral flexion deformities of wrists, elbows, knees and clubfoot, large hands and feet, deep palmar and plantar grooves, and calcaneo-plantar fat pads. Craniofacial dysmorphism, a

SUBMITTER: Pereira-Nunes J 

PROVIDER: S-EPMC9880567 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature