Results 51 to 60 of about 66,521 (260)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]

, 2016
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten, Alanay, Amstutz, Anton, Ashkenazy, Bevan-Thomas, Bronstein, Camera, Cuillier, Dillon, Doğer, Filly, Filly, Geipel, Gonçalves, Gupta, Hadi, Hamanishi, Jeanty, Keret, Lessoway, Lin, Macé, Mailath-Pokorny, Maldjian, Merz, Nemec, Oh, Otera, Parakh, Salomon, Silvas, Torre, Westberry   +33 more
core   +1 more source

Partial Pericardial Agenesis

Methodist DeBakey Cardiovascular Journal, 2023
Congenital absence of the pericardium is a rare anomaly, affecting the left pericardium (86%) more than the right, with male predilection distribution (3:1). In the majority of cases, the condition is asymptomatic. We describe a case of a 55-year-old female with a history of chronic hypercapnic respiratory failure secondary to restrictive lung disease ...
Akila Bersali, Faisal Nabi
openaire   +3 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Agenesis of the Maxillary First Permanent Molars: A Clinical and Radiographic Evaluation of a Rare Case

Journal of Dentistry Indonesia, 2017
Congenitally missing first permanent maxillary molars is a rare finding in any given population. The reported prevalence rate of maxillary first molar agenesis ranges from 0.2 to 1.5%. The exact aetiology of this dental anomaly is not clearly documented.
Sreekanth kumar Mallineni, Azher Mohiuddin Maohmmad, Anil Kumar patil, Ranvitha Priya Kodali   +3 more
doaj   +1 more source

Herlyn-Werner-Wunderlich syndrome : a rare genitourinary anomaly in females : a series of four cases [PDF]

, 2018
We present case series of four patients with an important syndrome known as Herlyn-Werner-Wunderlich syndrome. Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal ...
Ilyas, Mohd, Khan, Insha, Saldanha, Cimona L.   +2 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A Unique Presentation of Concomitant Hypo-Hyperdontia in Seven Year Old Child: A Rare Report

Journal of Dentistry Indonesia, 2015
Numerical variations of teeth are common. Hypodontia considered being presence of less number of teeth in normal complement while extra teeth to normal dentition are considered as hyperdontia.
Sreekanth K. Mallineni, Azher Mohiuddin, Anil K. Patil, Ranvitha P. Kodali   +3 more
doaj   +1 more source

On the role of the corpus callosum in interhemispheric functional connectivity in humans [PDF]

, 2017
Resting state functional connectivity is defined in terms of temporal correlations between physiologic signals, most commonly studied using functional magnetic resonance imaging. Major features of functional connectivity correspond to structural (axonal)
Hacker, Carl D., Leuthardt, Eric C., Limbrick, David D., Mitra, Anish, Raichle, Marcus E., Roland, Jarod L., Shimony, Joshua S., Smyth, Matthew D., Snyder, Abraham Z.   +8 more
core   +2 more sources

Tracheal agenesis

Indian Journal of Otolaryngology and Head and Neck Surgery, 2005
Tracheal agenesis, though seemingly rare and fatal to date, has been reported with increasing frequency. Establishment of the diagnosis necessitates a high index of suspicion in an infant in respiratory distress an birth, without a cry and in whom intubation is difficult. We report a case of tracheal agenesis.
A A, Joshi, R A, Bradoo, S, Kadam, S, Binoy, J, Mondkar, A, Kalgutkar   +5 more
openaire   +3 more sources