Results 61 to 70 of about 69,264 (288)

An aetiological evaluation of short stature

, 2017
Background: Short stature can be a normal variant or secondary to an underlying disorder. It is necessary to evaluate short stature to differentiate a normal from pathological short stature and thus decide the further treatment needed.
Deepa S. Phirke, Phirke, Deepa S., Phirke, Sachin O., Swati Khot, Sachin O. Phirke, Khot, Swati   +5 more
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Short stature and Helicobacter pylori infection in Italian children: prospective multicentre hospital based case–control study. (I.F. 5.143)

, 1998
Helicobacter pylori is mainly acquired in childhood,1 but the diseases associated with such infection remain unknown. Scottish and Italian schoolchildren infected with H pylori showed reduced growth in height,2,3 and H pylori gastritis was found in 55 ...
E. Chiorboli, G. Bona, DE ANGELIS, Gian Luigi, on behalf of the Italian Study Group on Short Stature end H. Pylori, C. Saieva, D. Palli, G. Oderda   +6 more
core  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Vitamin K2 deficiency associated with short stature in children: a cross-sectional study

BMC Pediatrics
Background Short stature in children is a common concern that can result from various underlying conditions. While factors such as growth hormone deficiency and nutritional deficiencies are well-known contributors, the role of vitamin K2 (VK2) in the ...
Yanjie Shen, Geyong Shi, Shumei Wen, Wei Luo, Ke Wang   +4 more
doaj   +1 more source

Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene

JCRPE
Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor.
Basma Haris, Idris Mohammed, Umm Kulthum Umlai, Diksha Shirodkar, Khalid Hussain   +4 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Associations of IGF-1, vitamin D, and bone minerals with short stature in children aged 24–59 months

Frontiers in Endocrinology
BackgroundChild growth results from the interaction of genetic, endocrine, nutritional, and environmental factors. Short stature is defined as a height-for-age Z-score below −2 standard deviations, according to the WHO Child Growth Standards 2006. Linear
Novina Novina, Aman Bhakti Pulungan, Michael Hermanussen, Agustini Utari, Yoyos Dias Ismiarto, Meita Dhamayanti, Eddy Fadlyana, Yudi Mulyana Hidayat, Raden Tina Dewi Judistiani, Vitriana Biben, Rovina Ruslami, Elrika Anastasia, Yola Herniati Herjanyo, Nadia Pramudani, Budi Setiabudiawan   +14 more
doaj   +1 more source

Managing idiopathic short stature: role of somatropin (rDNA origin) for injection

, 2010
J Paul Frindik1, Stephen F Kemp11University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, AR, USAAbstract: Idiopathic short stature (ISS) is a term that describes short stature in children who do not have growth hormone (GH)
J Paul Frindik, Stephen F Kemp
core