Gorlin syndrome – An adult diagnosis made in childhood

Abstract

Background: Syndromes in which some manifestations occur later in life are difficult to diagnose in childhood. A systematic clinical approach may prove to be extremely useful. Gorlin syndrome (GS) is characterized by jaw keratocysts and/or basal cell carcinomas usually appearing in the second decade of life. Clinical Description: A 9-month-old girl, second born to a nonconsanguineous couple, presented with delay in attaining milestones and spinal deformities. There was no significant antenatal, perinatal, neonatal, or family history. She had no neck control, vocalization, or social smile. Fixation and tracking of objects and startle response to sound was present. Salient examination findings were macrocephaly, frontoparietal bossing, flat occiput, hypertelorism, broad nasal bridge, right preauricular pit, palmar pitting, and kyphoscoliosis. X-ray chest revealed bifid vertebra, hemivertebrae, and bifid ribs. Echocardiogram, ultrasound abdomen, magnetic resonance imaging brain, and brainstem-evoked response audiometry were normal. Management: A systematic clinical approach was used that included the following steps: (1) history, examination, and identification of overt anomalies; (2) searching for concealed anomalies; (3) synthesizing information; (4) literature/database search using good search handles; (5) critically analyzing the differential diagnoses; and (6) surveillance for associated morbidities of established diagnosis. We arrived at a clinical diagnosis of GS after applying diagnostic criteria and excluding differential diagnoses. Appropriate intervention was started. The child is under annual follow-up. Conclusion: A systematic clinical approach including an effective search strategy with good handles helps in arriving at a clinical diagnosis in children with dysmorphism.

Keywords

• database search
• early diagnosis
• systematic clinical approach