The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sen-sorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dys-plasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sen-sory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cous...
Hereditary sensory autonomic neuropathies (HSAN) are rare forms of chronic neuropathies in children,...
Myhre syndrome (MS) is a very rare condition described in 1980 characterised by facial dysmorphism, ...
Introduction: Hereditary sensory and autonomic neuropathies type V (HSAN type V) is the rarest of se...
Five patients are described with a progressive sensory neuropathy in association with a spastic para...
Anterior cervical hypertrichosis (ACH) is a rare form of localized hypertrichosis with 15 previously...
severe hereditary sensory neuropathy The hereditary sensory and autonomic neuropathies (HSAN) are ra...
7 years old boy from city of Bam in Ker-man province was admitted to genetic clinic of Afzalipour ho...
Rosenberg and Chutorian reported the occurrence of progressive optic atrophy, sensorineural deafness...
Several types of hereditary sensory and autonomic neuropathies (HSAN) are reported in literatures. W...
severe hereditary sensory neuropathy The hereditary sensory and autonomic neuropathies (HSAN) are ra...
SummaryHereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recess...
Hereditary motor and sensory neuropathy (HMSN) with autosomal recessive inheritance represents a gen...
Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic syndromes of unknown etiology....
Abstract Background Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recess...
PubMedID: 16601541Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-do...
Hereditary sensory autonomic neuropathies (HSAN) are rare forms of chronic neuropathies in children,...
Myhre syndrome (MS) is a very rare condition described in 1980 characterised by facial dysmorphism, ...
Introduction: Hereditary sensory and autonomic neuropathies type V (HSAN type V) is the rarest of se...
Five patients are described with a progressive sensory neuropathy in association with a spastic para...
Anterior cervical hypertrichosis (ACH) is a rare form of localized hypertrichosis with 15 previously...
severe hereditary sensory neuropathy The hereditary sensory and autonomic neuropathies (HSAN) are ra...
7 years old boy from city of Bam in Ker-man province was admitted to genetic clinic of Afzalipour ho...
Rosenberg and Chutorian reported the occurrence of progressive optic atrophy, sensorineural deafness...
Several types of hereditary sensory and autonomic neuropathies (HSAN) are reported in literatures. W...
severe hereditary sensory neuropathy The hereditary sensory and autonomic neuropathies (HSAN) are ra...
SummaryHereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recess...
Hereditary motor and sensory neuropathy (HMSN) with autosomal recessive inheritance represents a gen...
Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic syndromes of unknown etiology....
Abstract Background Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recess...
PubMedID: 16601541Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-do...
Hereditary sensory autonomic neuropathies (HSAN) are rare forms of chronic neuropathies in children,...
Myhre syndrome (MS) is a very rare condition described in 1980 characterised by facial dysmorphism, ...
Introduction: Hereditary sensory and autonomic neuropathies type V (HSAN type V) is the rarest of se...