The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disorders having common oral, facial, and digital malformations. Here, we report a consanguineous family with a new variety of OFDS associated with acromelic short stature and genu valgum; the features overlapping with Ellis Van Creveld syndrome. One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature
We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguine...
Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general popula...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...
The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disorders having common oral, ...
We report a male patient with the clinical characteristics of an OFDS (oral facial digital syndrome)...
Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon...
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the ca...
Ellis-van Creveld syndrome also known as chondroectodermal dysplasia is a rare genetic disorder of t...
Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a ...
Ellis–van Creveld Syndrome1 (also called chondroectodermal dysplasia or mesoectodermal dysplasia ) i...
Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with ...
Objective: Ellis van Creveld syndrome (EvCS) is a rare autosomal recessive (AR) disorder first descr...
One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ecto...
Oral-facial-digital syndrome (OFDS) is a group of disorders characterized by oral cavity malformatio...
Background: Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial ...
We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguine...
Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general popula...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...
The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disorders having common oral, ...
We report a male patient with the clinical characteristics of an OFDS (oral facial digital syndrome)...
Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon...
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the ca...
Ellis-van Creveld syndrome also known as chondroectodermal dysplasia is a rare genetic disorder of t...
Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a ...
Ellis–van Creveld Syndrome1 (also called chondroectodermal dysplasia or mesoectodermal dysplasia ) i...
Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with ...
Objective: Ellis van Creveld syndrome (EvCS) is a rare autosomal recessive (AR) disorder first descr...
One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ecto...
Oral-facial-digital syndrome (OFDS) is a group of disorders characterized by oral cavity malformatio...
Background: Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial ...
We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguine...
Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general popula...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...