Mandibulo-acral dysplasia in a one-year-old boy.
We report on a 1-year-old boy with Mandibulo-acral dysplasia, a rare autosomal recessive syndrome (MIM 248370). He presented at the age of 6 months with short stature, scarce brittle hair and thin skin mainly on the skull with visible veins. The facial appearance was typical with micrognathia, prominent eyes and a thin nose. Hypoplastic terminal phalanges and acroosteolysis were present. Psychomotor development is normal.
Vantrappen
G
G
Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospital Leuven, Belgium.
Feenstra
L
L
Macours-Verelst
C
C
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002968:Clavicle / Q000002:abnormalities*; D003937:Diagnosis, Differential; D019066:Facies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D012868:Skin Abnormalities / Q000235:genetics