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Summary
CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT
CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY
118650
OMIM = Online Medalian Inheritance of Men
79344
unknown
rare
autosomal dominant
symptoms
alopecia
cataract
dysmorphism
feeding difficulties, poor feeding
flat depressed nasal bridge (saddle nose)
glaucoma
high arched palate
hyperkeratosis
hypertelorism
ichthyosis
limb abnormalities, limb deformities
microphthalmus
nystagmus
onset, neonatal
punctate calcifications
respiratory distress
X-ray, abnormalities
laboratory finding
no specific laboratory findings
Literature
Kondo Met al.Porphyrias in Japan: compilation of all cases reported through 2002Int J Hematol795448-4562004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hooft Cet al.Methionine malabsorption in a mentally defective childLancet27349201964
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Efron MLAminoaciduriaN Engl J Med27201058-10671965