Results 81 to 90 of about 11,053 (170)

SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE

open access: yesJurnal Rekonstruksi dan Estetik, 2019
Highlights: • Complex syndactyly in Apert syndrome, particularly when complicated with synonychia and synostosis, poses a significant surgical challenge.
Williams Mesang   +2 more
doaj   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

open access: yesClinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith   +15 more
wiley   +1 more source

Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

open access: yes, 2008
Nonsyndromic syndactyly is a common, heterogeneous hereditary condition of webbed fingers and toes that can be cutaneous or bony, unilateral or bilateral.
Macena Sobreira, Nara Lygia [UNIFESP]   +7 more
core   +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

Congenital anomalies in newborns: syndactyly [PDF]

open access: yes
Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, Chişinău, Republica MoldovaIntroduction. The name of “hand” comes from the Latin “manus”, derived from “manipulus”.
Zveaghinteva, Ludmila
core  

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

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
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   +1 more
wiley   +1 more source

Radiographic and computed tomographic evaluation and gait analysis of Brazilian minipigs with syndactyly

open access: yes, 2016
OBJECTIVE To characterize a population of Brazilian minipigs with naturally occur­ring syndactyly by use of plain radiographs and CT images and to evalu­ate kinetic and temporospatial variables by use of a pressure-sensing walkway.
Doiche, Danuta P. [UNESP]   +6 more
core   +1 more source

Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.

open access: yes, 1995
We report on 2 brothers from a consanguineous family from a small city of southeast Turkey. Both have bilateral anophthalmia, soft tissue syndactyly of the feet, bilateral partial synostosis of metatarsals IV and V, and basal synostosis of the fourth and
Altan, S   +2 more
core   +1 more source

Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy

open access: yesIndian Journal of Paediatric Dermatology, 2016
Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis. It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental, and skeletal defects.
Bharati Sahu   +3 more
doaj   +1 more source

Oro facial digital syndrome type 2- An Indian case report

open access: yesJournal of Pediatric Critical Care, 2016
The oral-facial-digital syndromes (OFDS) are rare genetic heterogenous group of disorders characterized by oral (mouth and teeth), facial and digital (fingers and toes) anomalies. OFDS are classified into 13 potential forms.
Naresh Bansal   +5 more
doaj   +1 more source

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