Case Reports: Pediatric Endocrinology (posters)


Persistent Müllerian Duct Syndrome Associated with 46,XY, Del(10q25.3q26.13)
Mustafa Tosur, Cara A Geary, Ravi S Radhakrishnan, William F Tarry, Jianli Dong, Reuben Matalon and Phillip D K Lee


Familial Hand-Foot-Genital Syndrome Associated with Deletion of HOXA13
Emir Tas, Jessica Sebastian, Svetlana A Yatsenko, Suneeta Madan-Khetarpal, Francis X Schneck and Selma Feldman Witchel


Three Families of Pseudohypoparathyroidism Type 1a (PHP1a) with Delayed Language Development during Early Childhood
Yuichi Miyakawa, Yohei Matsubara, Atsumi Tsuji, Kei Takasawa and Kenichi Kashimada



Novel Mutations of the Pericentrin Gene in Korean Brothers Leading to Diagnosis of Majewski Osteodysplastic Primordial Dwarfism Type II Syndrome
Hae Woon Jung, Hwa Young Kim, Kyung Min Lee, Andrew Dauber, Vivian Hwa, Ron G Rosenfeld, Young Ah Lee, Choong Ho Shin and Sei Won Yang


Normal Stature in a Case of Turner Syndrome: When It Is Possible?
Maria Fernanda Contreras, Bina Shah and Resmy Palliyil Gopi


Kenny-Caffey Syndrome: An Expanded Phenotype and Response to Growth Hormone Therapy
Melissa Bauters, Michael Guo, Andrew Dauber and Emily C Walvoord


Autosomal Recessive Hypophosphatemic Rickets 1 Due to Novel Nonsense and Deletion Compound Mutations in DMP1 Encoding Dentin Matrix Protein-1
Nursen Gurtunca, Michael A. Levine, Suneeta Madan-Khetarpal, Jessica Hartman and Luigi R Garibaldi


A Novel Heterozygous Insulin-like Growth Factor 1 Receptor (IGF1R) Gene Deletion in a Child with Short Stature and Neurofibromatosis 1
Marjorie C Golekoh, Shayne F Andrew, Vivian Hwa, Ron G Rosenfeld and Philippe Backeljauw


Diazoxide Induced Pulmonary Hypertension in an Infant
Rajan Senguttuvan, Mona Saleh, Mark Wheeler, Chetanbabu Patel, Cindy Chin and Priti Patel


Microdeletion in the Sry Gene in a Phenotypic Female 46, XY Patient with Swyer Syndrome
Margarida Vieira, Joana Simoes-Pereira, Ana Teixeira and Maria Conceição Pereira