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44 rev port estomatol med dent cir maxilofac. 2021;62(1):42-49

Table 1. Clinical criteria for the diagnosis of Coffin-Siris syndrome
Presence of the
Clinical criteria of CSS 6 Profile of the examined patient
characteristic
Predominant

1. Intellectual disability (mild to severe) Yes Moderate intellectual disability
2. Coarse facial features Yes Bulbous nose, thick eyebrows, thick lips, and flattened nasal
bridge
3. Hypoplasia of the fifth-digit nail Yes Deformations in the fingers and toes, absence of nails and
fifth phalanxes in some fingers
Less frequent
1. Ectodermal defects (hypertrichosis, hirsutism, sparse Yes Hypertrichosis and diastemas
hair, and dental anomalies)
2. Constitutional (microcephaly, short stature, growth Yes Short stature, motor and speech difficulties, and respiratory
retardation, and respiratory tract infections) tract infections
3. Organic (hearing loss, congenital heart defects, Yes Atrial septal defect and unilateral hearing impairment
ophthalmic anomalies as well as feeding difficulties)
Result / Confirmation Yes Coffin-Siris type A

cardiologist, otorhinolaryngologist, and speech therapist. Her Physical examination revealed deformations in the fingers
clinical profile included the three most frequent clinical find- and toes, absence of nails and fifth phalanxes in some fingers
ings of CSS and at least one of each of the three least prevalent (Figures 1 and 2), motor and speech difficulties, high palate,
categories (Table 1). She was not submitted to molecular ex- short stature, and unilateral hearing loss. Radiographic exam-
amination for diagnostic confirmation due to its high cost and ination of the hands and wrists revealed that the patient pre-
restricted access by the public health service. sented a delay in bone age. On extraoral examination, facial
There was no history of consanguinity between the par- features typical of the syndrome were observed, such as a
ents, and the patient was the oldest of the couple’s two daugh- bulbous nose, thick eyebrows, hypertrichosis, thick lips, and
ters. In the gestational history, there were no reports of com- flattened nasal bridge (Figure 3).
plications nor use of alcohol or drugs. She was born at term Intraoral examination revealed the presence of gingival
with low weight for gestational age (1,950 kg) and an Apgar hyperplasia in the upper arch and gingivitis associated with
th
score of 6/10 (5 minute). Her growth deficiency was apparent. the presence of dental biofilm, arched palate, Angle class I
Regarding previous dental history, her mother reported that it occlusion without crossbite or open bite, dolichofacial pattern,
was her daughter’s first visit to the dentist and that she con- labial hypotonia, and mild enamel hypomineralization (pres-
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sumed sugar food once to twice a week. ence of whitish-cream demarcated opacities) in the perma-

Figure 1. Absence of nails and fifth phalanxes in some Figure 2. Deformations in the fingers and toes.
fingers.