Results 51 to 60 of about 3,414,711 (270)

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Journal of Pediatrics Review, 2022
Background: Short stature is a common problem encountered by endocrinologists. Short stature may be due to normal variations of growth or pathologic process.
Vahid Sheikhi, Shamim Bonyadi, Zahra Heidari   +2 more
doaj  

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Prevalence of short stature and malnutrition among Egyptian primary school children and their coexistence with Anemia

Italian Journal of Pediatrics, 2020
Background Under nutrition and overweight typically occur during nutritional transition periods in developing countries including Egypt. Short stature and anemia are public health concern due to its strong link with malnutrition which is a preventable ...
Ali M. El-Shafie, Zeinab A. Kasemy, Zein A. Omar, Safa H. Alkalash, Amal A. Salama, Kerollos S. Mahrous, Shaimaa M. Hewedy, Nessreen M. Kotb, Heba S. Abd El-Hady, Eman S. Eladawy, Mohamed A. Zeid, Manar E. Abd El Hamid, Emad H. Hemeda, Mohamed A. El-shafie, Esraa A. El-Meligy, Wael A. Bahbah   +15 more
doaj   +1 more source

A novel familial 9q31.2q32 microdeletion: muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature [PDF]

, 2019
We report a novel 9q31.2q32 (chr9: 109195179-113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay.
Ramineni, Anand K., Cruickshanks, P, Ramineni, Anand K, Burgess, T, Ramineni, AK, Coman, David, Burgess, Trent, Cruickshanks, Penny, Coman, D   +8 more
core   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

A child with a novel ACAN missense variant mimicking a septic arthritis

Italian Journal of Pediatrics, 2019
Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried ...
Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno, Paolo Picco   +6 more
doaj   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source