Radiographs show metaphyseal
dysostosis. The disorder may involve the cervical spine
(odontoid hypoplasia), the skeleton (short stature secondary to
dwarfism with an adult height usually <135 cm, flaring of the
lower rib cage at the costochondral junction, scoliosis, lumbar
hyper-lordosis, platyspondylia, narrowed interpeduncular
distances, small pelvic inlet, limited elbow extension,
metaphyseal dysplasia, fibular length exceeding tibial length
distally, short hands, brachydactyly, joint
hyperextensibility), the viscera (Hirschsprung disease,
esophageal atresia, anal stenosis, malabsorption), the teeth
(microdontia, anomalies of the incisors and premolars), and the
hair and skin (sparse, fine, light colored hair, redundant skin
folds around the neck and the extremities, hypopigmentation,
onychodysplasia). Laboratory investigations may show macrocytic
anemia, neutropenia, lymphopenia, and cellular
immunodeficiency. Recurrent pulmonary and opportunistic
infections in these patients are common (mainly Candida
albicans, Pneumocystis carinii, and Cytomegalovirus). Patients are predisposed to a severe course
of Varicella infection (multiple fatalities have been
reported) and malignancies (in approximately 5% of patients,
mainly non-Hodgkin lymphomas). Susceptibility to infections
usually improves in adulthood. The higher mortality in these
patients compared to the general population mainly refers to
children and is a result of the compromised immune system.