Majewski syndrome (short‐rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys

• Published in: Congenital anomalies Vol. 54; no. 4; pp. 233 - 239
• Main Authors: Tonni, Gabriele, Palmisano, Marcella, Ventura, Alessandro, Grisolia, Gianpaolo, Baffico, Ave Maria, Pattacini, Pierpaolo, Bonasoni, Maria Paola, De Felice, Claudio
• Format: Journal Article
• Language: English; Japanese
• Published: Australia Wiley Subscription Services, Inc 01.11.2014
• Subjects: Adult; Female; Growth Plate - diagnostic imaging; Growth Plate - pathology; Health risk assessment; Humans; Kidney - diagnostic imaging; Kidney - pathology; lethal skeletal dysplasia; Liver - diagnostic imaging; Liver - pathology; Majewski syndrome; postmortem examination; Pregnancy; Prenatal Diagnosis; prenatal ultrasound diagnosis; Short Rib-Polydactyly Syndrome - diagnostic imaging; Short Rib-Polydactyly Syndrome - pathology; short‐rib polydactyly syndrome; Ultrasonography, Prenatal; lethal skeletal dysplasia; short-rib polydactyly syndrome; prenatal ultrasound diagnosis; postmortem examination; Majewski syndrome

The Majewski syndrome or short rib‐polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to microcephaly. A case of second...