Majewski syndrome (short‐rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys
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...
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| Published in | Congenital anomalies Vol. 54; no. 4; pp. 233 - 239 |
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| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English Japanese |
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01.11.2014
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| Abstract | 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 trimester ultrasound diagnosis of SRPS type II is reported with review of the medical record of previous observed cases. Postmortem examination and radiogram confirmed the clinical diagnosis. Histological examination of the femoral epypheseal chondral plate showed an expanded and irregular hypertrophic zone. Moreover, characteristic cortico‐medullary cysts of both kidneys and portal fibrosis were also demonstrated; findings consistent with the broad phenotypic spectrum of this rare skeletal disease. |
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| AbstractList | 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 trimester ultrasound diagnosis of SRPS type II is reported with review of the medical record of previous observed cases. Postmortem examination and radiogram confirmed the clinical diagnosis. Histological examination of the femoral epypheseal chondral plate showed an expanded and irregular hypertrophic zone. Moreover, characteristic cortico-medullary cysts of both kidneys and portal fibrosis were also demonstrated; findings consistent with the broad phenotypic spectrum of this rare skeletal disease. 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 trimester ultrasound diagnosis of SRPS type II is reported with review of the medical record of previous observed cases. Postmortem examination and radiogram confirmed the clinical diagnosis. Histological examination of the femoral epypheseal chondral plate showed an expanded and irregular hypertrophic zone. Moreover, characteristic cortico-medullary cysts of both kidneys and portal fibrosis were also demonstrated; findings consistent with the broad phenotypic spectrum of this rare skeletal disease.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 trimester ultrasound diagnosis of SRPS type II is reported with review of the medical record of previous observed cases. Postmortem examination and radiogram confirmed the clinical diagnosis. Histological examination of the femoral epypheseal chondral plate showed an expanded and irregular hypertrophic zone. Moreover, characteristic cortico-medullary cysts of both kidneys and portal fibrosis were also demonstrated; findings consistent with the broad phenotypic spectrum of this rare skeletal disease. |
| Author | Pattacini, Pierpaolo Bonasoni, Maria Paola Palmisano, Marcella Tonni, Gabriele Grisolia, Gianpaolo Ventura, Alessandro Baffico, Ave Maria De Felice, Claudio |
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| Copyright | 2014 Japanese Teratology Society 2014 Japanese Teratology Society. Copyright © 2014 Japanese Teratology Society |
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| References | 1982; 12 2005; 139A 2002; 19 1984; 26 1982b; 12 1982; 33 2008 2013; 93 2009; 151C 2007 1999; 147 2008; 74 1985; 22 2012; 160C 1983; 14 2001; 128 2012; 51 2007; 134 2010; 87 1993; 12 2010; 20 2009; 149A 2000 2004; 15 2008; 319 2011; 88 1980; 7 1971; 111 2012; 49 2012; 26 1982a; 12 2008; 40 2012; 23 2012; 20 2001; 114 1989 2011; 285 2003; 23 |
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| Snippet | The Majewski syndrome or short rib‐polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth... The Majewski syndrome or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth... |
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| SubjectTerms | 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 |
| Title | Majewski syndrome (short‐rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys |
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