Results 61 to 70 of about 4,501 (218)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Therapies for neonates with congenital malformations admitted to a neonatal unit

Revista Eletrônica de Enfermagem, 2015
The aim of this study was to characterize the treatments applied to newborns with congenital malformation hospitalized in a neonatal unit and to identify whether there is an association among the treatments used and the type of malformation.
Maria Vera Lúcia Moreira Leitão Cardoso, Valéria Rocha Mendes Lima, Fabíola Chaves Fontoura, Sofia Esmeraldo Rodrigues, Isadora Andrade Saraiva, Fernanda Cavalcante Fontenele   +5 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +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

Congenital Pulmonary Airway Malformation in a Retroviral Exposed Infant: A Case Report and Review of Literature

Nigerian Journal of Medicine
Congenital pulmonary airway malformation (CPAM) is a rare congenital lung malformation accounting for 25% of congenital malformations and 95% of congenital lung lesions.
Aondoaseer Michael, Adaora Blessing Chinenye Ogiator, Martha Omoo Ochoga   +2 more
doaj   +1 more source

It is not pneumothorax: Multicystic lung lesion in a six-year-old child

Proceedings of Singapore Healthcare, 2017
Congenital cystic adenomatoid malformation (CCAM) – recently reported as congenital pulmonary airway malformation – is a rare abnormality of lung development.
Eman Sobh, Amira Bahour, Shady Elia Anis
doaj   +1 more source

Congenital cystic adenomatoid malformation – dangers of misdiagnosis: a case report

Journal of Medical Case Reports, 2017
Background Congenital cystic adenomatoid malformation is a rare pulmonary malformation, but is the most common lung malformation observed in children. In developing countries, such as Morocco, prenatal diagnosis is missing.
Wafae El Amraoui, Aziza Bentalha, Hajar Hamri, Salma Es-Chrif El Kettani, Alae El Koraichi   +4 more
doaj   +1 more source

A PECULIAR CONGENITAL MALFORMATION. [PDF]

JAMA: The Journal of the American Medical Association, 1906
In July, 1905, I attended M. D. in confinement, the labor being in every respect normal. The woman gave birth to a healthy, robust boy, which gave a lusty cry before fully born and seemed to be normal in every way. I cut the cord and laid the child by while the mother was being attended to.
openaire   +1 more source