RT Journal
A1 Salinas A, Escamilla C, Rivera G, Martinez HR
T1 PIcture of the month—quiz case
JF Archives of Pediatrics & Adolescent Medicine
JO Archives of Pediatrics & Adolescent Medicine
YR 2012
FD July 1
VO 166
IS 7
SP 657
OP 657
DO 10.1001/archpediatrics.2012.189a
UL http://dx.doi.org/10.1001/archpediatrics.2012.189a
AB 
Physical examination revealed a generalized tan pigmentation of the skin, micrognathia, microcephaly, the absence of the fifth finger on both hands, and growth retardation (height, 138 cm; weight, 26 kg; below the third percentile). An oral examination revealed prolonged retention of deciduous teeth and noneruption of permanent teeth, patchy brown discoloration of the tongue (Figure 1), and brown gums with smooth surface texture and generalized inflammation (Figure 2). Laboratory studies revealed a hemoglobin level of 8 g/dL (normal range, 11.0-16.0 g/dL [to convert to grams per liter, multiply by 10.0]), a mean corpuscular volume of 100 μm3 or more (to convert to femtoliters, multiply by 1.0), a neutrophil count of 1100/μL (normal range, 2000-8030/μL [to convert to ×109/L, multiply by 0.001]), and a platelet count of 35 000 × 103/μL (normal range, 150 000-300 000 × 103/μL [to convert to ×109/L, multiply by 1.0]). A panoramic dental radiographic scan shows the noneruption of permanent teeth (Figure 3). The bone marrow biopsy confirmed marrow hypoplasia.