Results 81 to 90 of about 175,906 (292)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Maternal serum placental growth factor combined with second trimester aneuploidy screening to predict small-for-gestation neonates without preeclampsia

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To investigate the role of maternal serum placenta growth factor (PlGF) and quadruple test parameters in predicting the risk of small for gestational age (SGA) infants of mothers without preeclampsia.
Su Mi Kim, Hang Goo Yun, Ra Yon Kim, Yoo Hyun Chung, Ju Young Cheon, Jeong Ha Wie, Ji Young Kwon, Hyun Sun Ko, Yeon Hee Kim, Eun Hee Han, Joon Hong Park, Hyun Jung Kim, Myung Shin Kim, Jong Chul Shin, In Yang Park   +14 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Association between maternal lipid profiles and vitamin D status in second trimester and risk of LGA or SGA: a retrospective study

Frontiers in Endocrinology
BackgroundAccumulating evidence has linked dyslipidemia during pregnancy to the risk of delivering infants born either large for gestational age (LGA) or small for gestational age (SGA). However, the effects of the vitamin D status on these relationships
Xianhua Zheng, Kefeng Lai, Chengyi Liu, Yuan Chen, Xiaodan Zhang, Weixiang Wu, Mingyong Luo, Chunming Gu   +7 more
doaj   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

The Impact of Small-for-gestational-age on Neonatal Outcome Among Very-low-birth-weight Infants

Pediatrics and Neonatology, 2015
This study aimed to evaluate the impact of small-for-gestational-age (SGA) on mortality and morbidity in very-low-birth-weight (VLBW) infants. Methods: We conducted a retrospective cohort study on VLBW infants registered at the Premature Baby Foundation ...
Li-Yi Tsai, Yi-Ling Chen, Kuo-Inn Tsou, Shu-Chi Mu   +3 more
doaj   +1 more source

Initial results from the treatment with growth hormone of short, small for gestational age children

, 2021
Darina Krumova, Tanya Zlateva, Kameliya Rankova, Κaloyan Tsochev, Ралица Георгиева, Violeta Iotova   +5 more
openalex   +2 more sources

Correlation between Severity of Fetal Growth Restriction and Oxidative Stress in Severe Small-for-Gestational-Age Infants [PDF]

, 2021
Mariko Ashina, Takumi Kido, Yuki Kyono, Asumi Yoshida, Shutaro Suga, Ruka Nakasone, Shinya Abe, Kenji Tanimura, Kandai Nozu, Kazumichi Fujioka   +9 more
openalex   +1 more source

The Fetus That Is Small for Gestational Age

Annals of the New York Academy of Sciences, 2006
Abstract:  The symmetric small for gestational age (SGA) fetus presents a complex management problem for the obstetrician, but the growth restriction affects morbidity and mortality at all stages of life. The differential diagnosis in symmetric growth aberration includes the constitutionally small fetus, the fetus with pathology, and the ...
Vrachnis, Nikolaos, Botsis, Dimitrios, Iliodromiti, Zoe   +2 more
openaire   +3 more sources

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source