Results 41 to 50 of about 60,709 (313)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi Syndrome. [PDF]

PLoS ONE, 2014
BACKGROUND: Sleep related disordered breathing (SDB) in pediatric Prader-Willi Syndrome is gaining increased attention due to the possible association of growth hormone therapy, SDB and sudden death.
Michal Cohen, Jill Hamilton, Indra Narang   +2 more
doaj   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Obstructive Sleep Apnea in a Patient with CHARGE Syndrome

Case Reports in Otolaryngology, 2012
CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. We report a child with CHARGE syndrome and obstructive sleep apnea.
Carrie-Lee Trider, Kim Blake
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Obstructive Sleep Apnea Hypopnea Syndrome among Obese Patients Visiting the Outpatient Department of a Tertiary Care Centre

Journal of Nepal Medical Association
Introduction: Obstructive sleep apnea-hypopnea syndrome is a major health public problem, with a possible contribution to cardiovascular disease and obesity.
Mimansa Dixit, Sachin Pawar, Saumya Saket   +2 more
doaj   +1 more source

Pediatric Obstructive Sleep Apnea Syndrome [PDF]

Archives of Pediatrics & Adolescent Medicine, 2005
To review evidence-based knowledge of pediatric obstructive sleep apnea syndrome (OSAS).We reviewed published articles regarding pediatric OSAS; extracted the clinical symptoms, syndromes, polysomnographic findings and variables, and treatment options, and reviewed the authors' recommendations.Orthodontic and craniofacial abnormalities related to ...
Christian, Guilleminault, Ji Hyun, Lee, Allison, Chan   +2 more
openaire   +2 more sources

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

Oxidative stress and quality of life in elderly patients with obstructive sleep apnea syndrome: are there differences after six months of Continuous Positive Airway Pressure treatment?

Clinics
OBJECTIVES: This study evaluated the effect of Continuous Positive Airway Pressure treatment on oxidative stress parameters and the quality of life of elderly patients with obstructive sleep apnea syndrome.
Fabiana Yagihara, Ligia Mendonca Lucchesi, Vânia D'Almeida, Marco Túlio de Mello, Sergio Tufik, Lia Rita Azeredo Bittencourt   +5 more
doaj   +1 more source

Improvement in obstructive sleep apnea in a child with Down syndrome with rapid palatal expansion

, 2022
Children with Down syndrome (DS) have distinct orofacial structures that predispose them to sleep-disordered breathing. The management options for obstructive sleep apnea include continuous positive airway pressure, adenotonsillectomy, mandibular ...
최은경, 최윤정, 조형주
core   +1 more source