Results 81 to 90 of about 15,172 (214)

Penatalaksanaan Anestesi pada Pasien dengan Sindroma Apert yang Dilakukan Suturektomi

open access: yesJurnal Neuroanestesi Indonesia, 2013
Sindroma Apert adalah suatu gangguan genetik yang ditandai dengan penggabungan tulang yang terlalu dini (kraniosinostosis). Penggabungan dini tersebut menghambat pertumbuhan normal tulang dan mempengaruhi pertumbuhan bentuk kepala dan wajah. Penggabungan
Iwan Abdul Rachman   +2 more
doaj   +1 more source

Association of the Disheveled 2 (DVL2) Gene c.2044delC Variant with Increased Risk of Canine Cleft Palate

open access: yesAnimal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT Canine congenital cleft palate is one of the most common craniofacial anomalies in dogs, characterized by a failure of the palatal shelves to fuse properly during fetal development, leading to abnormal communication between the oral and nasopharyngeal cavities.
Jonas Donner   +5 more
wiley   +1 more source

Prenatal diagnosis of type A1 brachydactyly [PDF]

open access: yes, 2001
Brachydactyly can occur as an isolated malformation or as part of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful in multiple anomaly syndromes associated with hand and/or finger anomalies.
Hollander, N.S. (Nicolette) den   +3 more
core   +5 more sources

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans [PDF]

open access: yes, 2014
This is a freely-available open access publication. Please cite the published version which is available via the DOI link in this recordSplit-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression.
Birnbaum   +28 more
core   +1 more source

Macrodactyly - a case report

open access: yesNational Journal of Clinical Anatomy, 2012
A case of macrodctyly of thumb and index fingers in a female aged fourteen years is reported here. This subject was found to have abnormally large thumb and index fingers of her right hand.
Arun Kumar S Bilodi
doaj   +1 more source

Congenital deformity of the distal extremities in three dogs [PDF]

open access: yes, 2016
Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical
Della Valle, G.   +4 more
core   +4 more sources

A Rare Case of Poland Syndrome with Absence of Ipsilateral Nasolacrimal Duct [PDF]

open access: yesIndian Journal of Physical Medicine & Rehabilitation, 2008
First described in a cadaver examined by A. Poland atGuy’s Hospital in 1841, “this combined anomaly of webbedfingers(cutaneous syndactyly) of the hand on the sameside and the absence or underdevelopment of the sternocostalportion of ipsilateral ...
Gupta AK   +5 more
doaj  

Incidence of cleft lip and palate in Gorgan - Northern Iran: An epidemiological study [PDF]

open access: yes, 2012
Objective: Cleft lip with or without cleft palate is the most common orofacial congenital anomaly among live births. This study was carried out to determine the incidence rate of oral clefting in Gorgan, Northern Iran during 2004-2009.
Golalipour, M.J.   +3 more
core   +2 more sources

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

open access: yesMedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi   +5 more
wiley   +1 more source

Fingers Matter: The Development of Strategies for Solving Arithmetic Problems in Children With Apert Syndrome

open access: yesFrontiers in Education, 2019
There is very little research on cognitive outcomes and challenges for children with Apert syndrome. This paper describes the findings of a 2½-year longitudinal exploration of the development of arithmetic skills in 10 children with Apert syndrome, who ...
Caroline Hilton
doaj   +1 more source

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