Results 81 to 90 of about 11,053 (170)
SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE
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
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?
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
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]
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
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
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.
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, 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
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

