American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Evaluation of maternal infusion therapy during pregnancy for fetal development
International Journal of Medical Sciences, 2005 The aim of this project was to study the possible association between maternal infusion treatments during pregnancy and variables of fetal development as well as the occurrence of congenital abnormalities (CA) in a case-control design.
doaj
Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities-First case report. [PDF]
Clin Case Rep, 2021 Onur P, Shaver M, Iqbal MA.
europepmc +1 more source
Seasonal Variation in Congenital Abnormalities: Preliminary Report of a Survey Conducted by the Research Committee of Council of the College of General Practitioners [PDF]
, 1964 B. C. S. Slater +2 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +1 more source
Indian Journal of Plastic Surgery, 2005 Pectus carinatum is an uncommon congenital anomaly. Surgical correction for the deformity is infrequently sought but is usually very rewarding. There are three types of the deformity, viz. chondro- gladiolar, chondro-manubrial and the lateral variety, of
Dogra B, Singh Manmohan, Langer Vijay
doaj
B. Hallgren: Retinitis Pigmentosa combined with congenital deafness; with vestibulocerebellar ataxia and mental Abnormality in a Proportion of cases: a Clinical and Genetico-Statistical Study, geh., 97 S., ohne Preis. Ejnar Munksgaard, Kopenhagen, 1959. [PDF]
, 1960 Grebe
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Congenital malformations : a historical perspective in a Mediterranean community [PDF]
, 2007 Many important discoveries have been made in the last five decades in the field of hereditary mechanisms, environmental teratogenesis, prenatal diagnosis and medical/ surgical management of affected individuals with congenital malformations.
Savona-Ventura, Charles
core
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses +21 more
wiley +1 more source
Cancer, chromosomes and congenital abnormalities [PDF]
, 1967 Kenneth W. Dumars +2 more
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