PMC6164201_01
Patient's facial appearance demonstrating cloudy cornea, exophthalmos, underdeveloped ala nasi, maxillary hypoplasia, and micrognathia.
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Her distinctive facial features were the cloudy cornea, exophthalmos, underdeveloped ala nasi, maxillary hypoplasia, and micrognathia (Figure 1).
Plain hands radiograph demonstrating the absence of carpal bones and osteolysis of the proximal end of metacarpal bones as well as the resorbed distal end of ulna and radius. Severe cortical thinning of metacarpal and phalangeal bones as well as bowing of ulna and radial bones was observed.
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HCO3 11 mmol/L, phosphate 2.6, calcium 3.8 mg/dL, albumin 0.6 g/dL, alkaline phosphatase (ALP) 13.5 U/L, with parathyroid hormone (PTH) level at 94 pg/ml. Her radiography of the upper extremities showed absence of carpal bones, osteolytic lesions of metacarpal, and distal ends of ulna and radial bones (Figure 2). In addition, severe cortical thinning of all bones indicating osteopenia was observed (Figures 2 and 3).
Radiographs of right (a) and left (b) ankles demonstrating the osteolysis of tarsal bones, distal tibial epiphysis, the proximal end of metatarsal bones, and the distal end of fibula. Severe cortical thinning and osteopenia of all bones as well as bowing of both tibias were observed.
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The radiography of the lower extremities demonstrated absence of tarsal bones, osteolytic lesions of metatarsal bones, and distal end of fibula (Figure 3). In addition, severe cortical thinning of all bones indicating osteopenia was observed (Figures 2 and 3).
Sanger sequencing of MAFB gene. (a) Proband forward demonstrating a heterozygous missense mutation at nucleotide 197 from C to G (c.197C>G) that predicts the change of amino acid at codon 66 from serine to cysteine (p.Ser66Cys). The sequences of the unaffected mother (b) and the father (c) showing normal nucleotides TCC at codon 66.
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We identified a de novo heterozygous missense mutation at nucleotide 197 from C to G (NM_005461.4; c.197C > G; Figure 4), predicting the change of amino acid at codon 66 from serine to cysteine (p.Ser66Cys).