Results 101 to 110 of about 256,394 (202)

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families

Frontiers in Genetics
IntroductionHearing loss is a frequent sensory impairment type in humans, with about 50% of prelingual cases being attributed to genetic factors. Autosomal recessive hearing loss (ARHL) exhibits great locus heterogeneity and is responsible for 70%–80% of
Larissa Nascimento Antunes, Alex Marcel Moreira Dias, Beatriz Cetalle Schiavo, Beatriz C. A. Mendes, Debora Romeo Bertola, Debora Romeo Bertola, Karina Lezirovitz, Regina Célia Mingroni-Netto   +7 more
doaj   +1 more source

Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

, 2006
Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and autosomal recessive (OMIM 240200) forms are recognized.
Tiong Yang Tan, Peter Ellis Campbell, Ravi Savarirayan, Savarirayan, R, Margaret Zacharin, Ekert, PG, J. Larry Jameson, Jameson, JL, Campbell, PE, Zacharin, M, Paul G. Ekert, Tan, TY   +11 more
core   +1 more source

A preterm neonate with infantile liver failure syndrome 1 due to leucyl‐tRNA synthetase 1 gene (LARS1) mutations with a histopathologic phenotype of neonatal hemochromatosis

JPGN Reports, EarlyView.
Abstract We report a case of a premature, growth‐restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end‐stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic ...
Adrienne Bruder, Naomi Laventhal, Raja Rabah, Jacqueline Meadow   +3 more
wiley   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

JPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher, Kathryn S. Czepiel, Matthew B. Neu, Andrea Carolina Cortes Fernandez, L. Walden Browne, Annie D. Niehaus, Roberto Gugig   +6 more
wiley   +1 more source

Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance.

, 1994
The exceptional observation of a healthy couple with two girls and a boy suffering from pulmonary hypoplasia and two normal children is reported. The affected infants died 1, 2 and 20 h after birth respectively.
Fleischhauer A, Gersbach M, Frey B
core   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Congenital cutis laxa syndrome: type II autosomal recessive inheritance

The Turkish Journal of Pediatrics, 2003
Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types.
Beyhan Tüysüz, Müjde Arapoğlu, Barbaros Ilikkan, Cuyan Demirkesen, Yildiz Perk   +4 more
doaj  

Congenital short bowel syndrome: Clinical aspects by systematic review

JPGN Reports, EarlyView.
Abstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Barblin Remund, Susanne Schibli, Christiane Sokollik   +2 more
wiley   +1 more source

Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance

, 2010
Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism ...
LAINO, LUIGI, IANNETTI, Giorgio, Raoul C.M. Hennekam, Marco Castori, Castori, Marco, Valiante, Michele, Michele Valiante, Raoul C. M. Hennekam, Luigi Laino, CASCONE, PIERO, Hennekam, Raoul C. M., Paola Grammatico, GRAMMATICO, Paola, Piero Cascone, Giorgio Iannetti   +14 more
core   +1 more source

A case report of non‐syndromic colonic ganglioneuroma in a patient with juvenile polyposis

JPGN Reports, EarlyView.
Abstract Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12‐year‐old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic ...
Holly Coffey, Kshitij Arora, Matthew J. Giefer   +2 more
wiley   +1 more source