<p>The patient 1 at 3 years of age: short stature, prominent forehead, strabismus, epicanthus, low-set-ears, depressed nasal bridge, short phyltrum, V-shaped mouth. Mild brachydactyly, cutaneous syndactyly of 2nd and 3rd toes.</p
Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skele...
<p>The male proband, A and B at age of 4 years and 6 months; C at age of 11 years and 9 months, show...
3-M syndrome is an underdiagnosed autosomal recessive disorder characterized by severe pre- and post...
Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of ...
3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial featur...
3M syndrome is characterized by severe pre- and post-natal growth restriction, typical face, slender...
<p>Dysmorphic features include a low posterior hairline, small (<−2 standard deviation), low-set ear...
Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by p...
3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with auto...
<p>The patient's facial appearance shows some broadening of the nose and supra orbital ridges (left)...
Background: Short stature (SS) is a relatively early sign of poor health. Only in 5% of cases we can...
PubMed ID: 22876588We report on a 13-year-old girl who was the first child of nonconsanguineous pare...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...
delineation and natural history The sixth reported case of the SHORT syndrome is described and is co...
17 year old woman with ptosis and diplopia. Limitation is very subtle. Shows a cover cross cover te...
Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skele...
<p>The male proband, A and B at age of 4 years and 6 months; C at age of 11 years and 9 months, show...
3-M syndrome is an underdiagnosed autosomal recessive disorder characterized by severe pre- and post...
Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of ...
3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial featur...
3M syndrome is characterized by severe pre- and post-natal growth restriction, typical face, slender...
<p>Dysmorphic features include a low posterior hairline, small (<−2 standard deviation), low-set ear...
Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by p...
3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with auto...
<p>The patient's facial appearance shows some broadening of the nose and supra orbital ridges (left)...
Background: Short stature (SS) is a relatively early sign of poor health. Only in 5% of cases we can...
PubMed ID: 22876588We report on a 13-year-old girl who was the first child of nonconsanguineous pare...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...
delineation and natural history The sixth reported case of the SHORT syndrome is described and is co...
17 year old woman with ptosis and diplopia. Limitation is very subtle. Shows a cover cross cover te...
Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skele...
<p>The male proband, A and B at age of 4 years and 6 months; C at age of 11 years and 9 months, show...
3-M syndrome is an underdiagnosed autosomal recessive disorder characterized by severe pre- and post...