Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

The spondylocostal dysostoses (SCD) are a clinically and genetically heterogeneous group of disorders characterized by defects of vertebral segmentation and rib abnormalities. We report on the diagnosis of two siblings with SCD. Diagnosis was first made in a female infant following a pregnancy that was complicated by early fetal hydrops and a nuchal translucency of 8.2 mm in the first trimester. The clinical picture was complicated by the co‐existent diagnosis of confined placental mosaicism (CPM) for tetrasomy 9p. To our knowledge, this is the first report of CPM for tetrasomy 9p. Postnatally the diagnosis of SCD was made on the basis of radiographic findings comprising multiple anomalies of the cervical and thoracic vertebrae and multiple fused and dysplastic ribs. Radiographic investigation of other family members showed that the infant's 4‐year‐old sibling had fusion of four ribs on the right side, indicating a less severe form of SCD. Testing of the genes DLL3, MESP2, and LFNG did not identify a mutation, suggesting that the siblings may have a new molecular subtype of SCD. © 2008 Wiley‐Liss, Inc.

[1]  B. Alman,et al.  Abnormal vertebral segmentation and the notch signaling pathway in man , 2007, Developmental dynamics : an official publication of the American Association of Anatomists.

[2]  S. Phadke,et al.  Spondylothoracic dysplasia: Prenatal diagnosis and the problems of nosologic overlap , 2007, American journal of medical genetics. Part A.

[3]  Chih-ping Chen,et al.  Prenatal diagnosis of low‐level mosaic tetrasomy 9p by amniocentesis , 2007, Prenatal diagnosis.

[4]  M. Yayla,et al.  Prenatal Diagnosis of Jarcho-Levin Syndrome in the First Trimester , 2006, Gynecologic and Obstetric Investigation.

[5]  W. F. Ng,et al.  Three‐dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy , 2006, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[6]  D. Sillence,et al.  Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. , 2006, American journal of human genetics.

[7]  Chih-ping Chen,et al.  Prenatal diagnosis of low‐level mosaic trisomy 7 by amniocentesis , 2005, Prenatal diagnosis.

[8]  D. Chitayat,et al.  Tetrasomy 9p Mosaicism Associated with a Normal Phenotype , 2005, Fetal Diagnosis and Therapy.

[9]  K. Nicolaides,et al.  Increased nuchal translucency with normal karyotype. , 2005, American journal of obstetrics and gynecology.

[10]  N. Bargalló,et al.  Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family History , 2005, Fetal Diagnosis and Therapy.

[11]  J. V. van Vugt,et al.  Prenatal diagnosis of tetrasomy 9p in a 19‐week‐old fetus with Dandy–Walker malformation: a case report , 2004, Prenatal diagnosis.

[12]  D. Bettelheim,et al.  Prenatal diagnosis of tetrasomy 9p with Dandy–Walker malformation , 2004, Prenatal diagnosis.

[13]  D. Sillence,et al.  Mutated MESP2 causes spondylocostal dysostosis in humans. , 2004, American journal of human genetics.

[14]  F. Solé,et al.  Two cases of tetrasomy 9p syndrome with tissue limited mosaicism , 2004, American journal of medical genetics. Part A.

[15]  S. Ellard,et al.  Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis , 2003, Prenatal diagnosis.

[16]  S. Ellard,et al.  Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis , 2003, Journal of medical genetics.

[17]  H. Randrianaivo,et al.  Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy , 2003, Prenatal diagnosis.

[18]  U. Surti,et al.  Three cases of tetrasomy 9p. , 2002, American journal of medical genetics.

[19]  D. Sillence,et al.  Diverse requirements for Notch signalling in mammals. , 2002, The International journal of developmental biology.

[20]  D. Pretorius,et al.  Detection of Jarcho–Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three‐dimensional ultrasound , 2001, Prenatal diagnosis.

[21]  R. V. van Lingen,et al.  Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22. , 1999, American journal of medical genetics.

[22]  P. Wieacker,et al.  Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies , 1999, European Journal of Pediatrics.

[23]  C. P. Lee,et al.  Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[24]  D. Levine,et al.  Jarcho‐Levin syndrome: two consecutive pregnancies in a Puerto Rican couple , 1998, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[25]  A. Schinzel,et al.  Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation , 1998, European Journal of Human Genetics.

[26]  E. Shalev,et al.  Early sonographic diagnosis of Jarcho‐Levin syndrome: a prospective screening program in one family , 1997, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[27]  J. C. Parke,et al.  Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review. , 1993, American journal of medical genetics.

[28]  E. Rupprecht,et al.  Spondylocostal dysostosis: dominant type. , 1990, American journal of medical genetics.

[29]  M. Seashore,et al.  PRENATAL FINDINGS IN A CASE OF SPONDYLOCOSTAL DYSPLASIA TYPE I (JARCHO-LEVIN SYNDROME) , 1988, Obstetrics and gynecology.

[30]  D. Cavalcanti,et al.  Tetrasomy 9p caused by idic (9) (pter----q13----pter). , 1987, American journal of medical genetics.

[31]  F. Desposito,et al.  Difficulties in the prenatal diagnosis of Jarcho-Levin syndrome. , 1987, American journal of obstetrics and gynecology.

[32]  J. Tolmie,et al.  Second trimester prenatal diagnosis of the Jarcho‐Levin syndrome , 1987, Prenatal diagnosis.