A 9-year-old male patient, four months old, with no relevant familial history, denied consanguinity and inbreeding.
It was the product of the second pregnancy, with duration of pregnancy of 36 weeks.
At birth he weighed 2,900 kg, had complete congenital cataracts, which were treated surgically.
His psychomotor development was very ill.
At 3 years his growth and development stagnated abruptly.
Physical examination revealed a height of 94 cm and a weight of 8.6 kg, perimeter of 42 cm, and blood pressure of 120 mm/Hg.
Physical examination revealed: cachectic habit, postural problems with hoarseness, oval face, sunny eyes, thin and sharp nose, shortness of breath in the cheeks.
Marked photosensitivity is observed mainly on the face.
Psychomotor and mental retardation is also remarkable.
Not being able to stand still
Fig.1.
1.
In the oral examination we found the mucosa of normal consistency, narrow palate slightly increased depth, poor hygiene and gingivitis.
The teeth erupted are 11, 12, 16, 21, 22, 26, 31, 32, 33, 34, 36, 41, 42, 43 and 46, partially erupted are 15 and 25.
Of these 12, 22, 32 and 42 are slightly rotated, 11 and 21 have macrodontia, in 21 caries occurs at the level of the incisal third, 16, 26 teeth are hypoplastic.
Lower limbs are affected by cervical caries.
Radiographically, germs of teeth 13, 17, 27, 35, congenital absence 45, 47, 14, 23 and 24 are observed.
Eruptive teeth have short roots.
Mandible is seen underneath the body, branches and condyles; alveolar bone is notorious.
