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Introduction
Aplasia of the lacrimal and salivary glands, as suggested by its name, is characterized by the lack of lacrimal and salivary glands. However, extraglandular manifestations may occur. Because of the complexity of this condition, it can be difficult to diagnose, and patients must be examined thoroughly.1 Alacrima can cause xerophthalmia, red eye, irritability, corneal perforation, and blindness. Aplasia or hypoplasia of the major salivary glands can cause xerostomia, increasing the risk of dental erosion and dental caries. Other complications include periodontal disease, oral soft tissue inflammation, and disorders of chewing and swallowing. Clinicians should monitor the symptoms closely, and should be aware of probable complications.2 According to Wiedemann's report,1 upslanting palpebral fissures, synophrys, hemangiomas, clinodactyly of the fifth fingers, and shawl scrotum abnormalities are associated with this disorder. This report describes a patient with well-established characteristic findings of aplasia of the lacrimal and salivary glands with the additional findings of growth and development retardation. This association has not been described previously.
Case Report
A 3-year-old boy, the first child of nonconsanguineous parents, was admitted to the pediatric outpatient clinic of the authors' institution with mouth dryness, absence of tears even with hard crying, and corneal opacity in the right eye. The patient was born at term by cesarean section after an uneventful pregnancy. Birth weight was 2,750 g, and perinatal hypoxia or anoxia was not reported. Psychomotor development was delayed during infancy, and the patient had a history of recurrent corneal erosions and ulceration in the right eye. Corneal epithelial debridement had been performed twice in another clinic, once at 12 months of age and again at 18 months of age. Physical examination showed short stature (less than the third percentile), normal head circumference, and low weight (less than the third percentile). The oral mucosa was dry; scant amounts of saliva and severe dental caries in multiple teeth were detected. No other family member with similar signs and symptoms has been detected in the patient's pedigree.
On ophthalmic examination, the eyelids, eyelid margins, and puncta were normal, as were eyelid and eye movements. The patient's fixation preference was for the left eye, and fixation and following of the right eye was weak. Central corneal stromal opacity, covering the pupil,...