Results 101 to 110 of about 342,862 (291)

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

The Responses of Newborn Infants to Tactile Stimulation Provided by Nurses [PDF]

, 1968
The problem considered in this study was: Does tactile stimulation which nursing personnel provide produce positive responses in newborn infants? A review of the literature indicated that the infant is born with physical and emotional needs which must be
Clarke, Elizabeth DeHaven
core   +2 more sources

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Rh Negative Status and Isoimmunization Update: A Case-Based Approach to Care [PDF]

, 2003
Prior to the 1970s and the advent of Rho (D) immune globulin (RIG) for Rh negative women, hemolytic disease of the newborn led to morbidity, long-term disabilities, and mortality.
Hanson, Lisa, Harrod, Kathryn Shisler, Heywood, Patricia, VandeVusse, Leona   +3 more
core   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Neonatal purpura fulminans in newborn with severe congenital protein C deficiency: Case report

Journal of Dermatology and Dermatologic Surgery, 2017
Neonatal purpura fulminans (PF) is a rare, life-threatening condition, caused by congenital or acquired deficiencies of protein C or S. PF describes a clinico-pathological entity of dermal microvascular thrombosis associated with disseminated ...
Sultan A. Jafarri, Khalid M. AlAttas, Sultan M. Bajawi, Mohammad K. Ahsan, Ali M. Al-Sheikh, Mohammed A. Buraik, Amr Mohammed Gamal, Nadia S. Mustafa   +7 more
doaj   +1 more source

Maternity care and 'Every Child Matters' [PDF]

, 2009
The first part of the chapter will provide an introduction to maternity services in the UK and why it is the foundation of ‘Every Child Matters’. It is the earliest healthcare intervention of all for the child and it is essential to get it right for ...
Hutchinson, Fiona
core  

Neuroblastoma in a newborn infant

Paediatrica Indonesiana, 1981
The incidence of neuroblastoma, one of the most common malignant neoplasms in infants and children is greatest at the age of two years; but occasionally is diagnosed at birth. The diagnosis may be simple or very complicated. It is even more difficult when it occurs in the newborn infant.
H, Tjandra, E, Sarwono, E H, Tambayong
openaire   +3 more sources

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source