• Issue

    Birth Defects Research Part A: Clinical and Molecular Teratology: Volume 97, Issue 12

    759-815
    December 2013
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Original Research Articles

Full Access

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex

Lihong Qi,  Mei Wang,  Garima Yagnik,  Manuel Mattheisen,  John P. Gearhart,  Yegappan lakshmanan,  Anne-Karolin Ebert,  Wolfgang Rösch,  Michael Ludwig,  Markus Draaken,  Heiko Reutter,  Simeon A. Boyadjiev, 
  • Pages: 759-763
  • First Published: 02 August 2013

Brief Reports

Full Access

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

Salma Ben-Salem,  Jozef Hertecant,  Aisha M. Al-Shamsi,  Bassam R. Ali,  Lihadh Al-Gazali, 
  • Pages: 764-769
  • First Published: 06 September 2013

Original Research Articles

Full Access

Prenatal diagnosis of femoral–facial syndrome: Report of two cases

Emil Silvas,  Françoise Rypens,  Mubina Jovanovic,  Anne-Lise Delezoide,  Natalie Patey, 
  • Pages: 770-773
  • First Published: 19 November 2013
Full Access

Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype

Anastasia E. Konstantinidou,  Jason Tasoulas,  Georgios Kallipolitis,  Spyros Gasparatos,  Voula Velissariou,  Helen Paraskevakou, 
  • Pages: 774-780
  • First Published: 29 November 2013

Brief Reports

Full Access

Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes

Oscar Girón Vallejo,  María del Carmen Benítez Sánchez,  Cesar Salcedo Cánovas,  Joanna Díez Ontiveros,  José Ignacio Ruiz Jiménez,  Eva Bermejo-Sánchez,  María Luisa Martínez-Frías, 
  • Pages: 781-785
  • First Published: 04 December 2013

Original Research Articles

Full Access

Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum

Vera Choinitzki,  Nadine Zwink,  Enrika Bartels,  Friederike Baudisch,  Thomas M. Boemers,  Alice Hölscher,  Salmai Turial,  Haitham Bachour,  Andreas Heydweiller,  Ralf Kurz,  Peter Bartmann,  Markus Pauly,  Ulrike Brokmeier,  Andreas Leutner,  Markus M. Nöthen,  Johannes Schumacher,  Ekkehart Jenetzky,  Heiko Reutter, 
  • Pages: 786-791
  • First Published: 05 December 2013
Full Access

Analysis of cardiac anomalies in VACTERL association

Bridget K. Cunningham,  Donald W. Hadley,  Hwaida Hannoush,  Andrew C. Meltzer,  Nickie Niforatos,  Daniel Pineda-Alvarez,  Vandana Sachdev,  Nicole Warren-Mora,  Benjamin D. Solomon, 
  • Pages: 792-797
  • First Published: 17 December 2013
Full Access

Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic

Diana Carli,  Tracy Fairplay,  Paola Ferrari,  Silvana Sartini,  Mario Lando,  Lorenzo Garagnani,  Giovanni Luigi Di Gennaro,  Luciana Di Pancrazio,  Giorgia Bianconi,  Amira Elmakky,  Sergio Bernasconi,  Antonio Landi,  Antonio Percesepe, 
  • Pages: 798-805
  • First Published: 17 December 2013

Brief Reports

Full Access

Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne

Anne Debost-Legrand,  Carole Goumy,  Hélène Laurichesse-Delmas,  Pierre Déchelotte,  Anne-Marie Beaufrère,  Didier Lémery,  Christine Francannet,  Denis Gallot, 
  • Pages: 806-811
  • First Published: 06 November 2013
Full Access

Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord

Jinglan Liu,  Reena Jethva,  Michael T. Del Vecchio,  John E. Hauptman,  Judy M. Pascasio,  Jean-Pierre de Chadarévian, 
  • Pages: 812-815
  • First Published: 12 November 2013