Results 41 to 50 of about 16,390 (254)

Four Unusual Cases of Congenital Forelimb Malformations in Dogs

Animals, 2021
Four dogs were presented with thoracic limb deformity. After clinical and radiographic examinations, a diagnosis of congenital malformations was performed for each of them.
Simona Di Pietro, Giuseppe Santi Rapisarda, Luca Cicero, Vito Angileri, Simona Morabito, Giovanni Cassata, Francesco Macrì   +6 more
doaj   +1 more source

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

Frontiers in Genetics, 2020
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and
Katrien Stouffs, Katrien Stouffs, Patrick Verloo, Stefanie Brock, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Anna C. Jansen, Marije E.C. Meuwissen, Marije E.C. Meuwissen   +11 more
doaj   +1 more source

Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia

Scripta Score Scientific Medical Journal, 2021
Background: Apert syndrome is characterized by several malformations of cranial-facial and syndactyly. The incidence of Apert syndrome was reported at approximately 1 per 65,000 live births, globally.
Muhammad Pradhika Mapindra, Muhammad Pradhiki Mahindra   +1 more
doaj   +1 more source

4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation [PDF]

, 2009
On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split ...
Lurie, I W, Niedrist, D, Schinzel, A
core   +1 more source

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)

BMC Genetics, 2007
Background Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds.
Höltershinken Martin, Distl Ottmar, Tammen Imke, Harlizius Barbara, Leeb Tosso, Drögemüller Cord, Gentile Arcangelo, Duchesne Amandine, Eggen André   +8 more
doaj   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome [PDF]

Clin Case Rep
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Bolzon A, Caroppo F, Passaglia L, Boaretto F, Salviati L, Belloni Fortina A.   +5 more
europepmc   +2 more sources

An exploration of the cognitive, physical and psychosocial development of children with Apert syndrome [PDF]

, 2016
Apert syndrome is a rare condition, with a birth prevalence of approximately 1 in 65 000. This article provides an up to date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts.
Hilton, C
core   +1 more source

Evaluation of hexagonal flap for Syndactyly repair

Zanco Journal of Medical Sciences
Background and objective: Syndactyly is among the most commonly treated hand anomalies by plastic surgeons. Since the 1800s,over 46 corrective procedures have been described.
Lavin Jawher Putris, Jalal Hamasalih Fattah   +1 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source