Introduction
Cantú syndrome clinical manifestations | III.3 | II.8 | II.3 | III.1 | |
---|---|---|---|---|---|
Cranio-facial dysmorphology | |||||
Coarse facial appearance | + | + | + | + | |
Broad nasal bridge | + | + | + | + | |
Bulbous nose | + | + | + | + | |
Small nose/anteverted nostrils |
−
|
−
| − | ||
Prominent mouth with thick lips | + | + | + |
−
| |
Long philtrum | + | + | + | + | |
Macroglossia | + | + | + | + | |
Gingival hyperplasia |
−
|
−
|
−
| + | |
High or narrow palate |
−
|
−
|
−
|
−
| |
Anterior open bite |
−
|
−
|
−
|
−
| 3/11 [5] |
Epicanthal folds |
−
|
−
|
−
|
−
| |
Short neck |
−
|
−
|
−
|
−
| 5/11 [5] |
Multiple labial frenula |
−
|
−
|
−
|
−
| One single case [16] |
Hair | |||||
Congenital generalized hypertrichosis | + | + | + | + | |
Abundant/curly eyelashes |
−
|
−
|
−
|
−
| 9/11 [5] |
Spiky hair |
−
|
−
|
−
|
−
| 2/14 [1] |
Cardiovascular | |||||
Cardiomegaly |
−
|
−
| + |
−
| |
Concentric hypertrophy of the ventricles |
−
|
−
|
−
|
−
| |
Pericardial effusion |
−
| + |
−
|
−
| |
Pulmonary hypertension | n.a. | n.a. | n.a. | n.a. | |
Patent ductus arteriosus | n.a. | n.a. | n.a. | n.a. | |
Patent foramen ovale | n.a. | n.a. | n.a. | n.a. | |
Atrial septal defects |
−
|
−
|
−
|
−
| 2/14 [1] |
AV block or fascicular block |
−
|
−
|
−
|
−
| 1/2 [15] |
Thoracic aorta aneurism | n.a. | n.a. | n.a. | n.a. | One single case [15] |
Myocarditis |
−
|
−
|
−
|
+
| |
Skeletal abnormalities | |||||
Thickened calvarium |
−
|
−
| + |
−
| |
Craniosynostosis |
−
|
−
|
−
|
−
| 1/2 [15] |
Broad ribs |
−
|
−
|
−
|
−
| |
Narrow thorax |
−
|
−
|
−
|
−
| 4/11 [5] |
Platyspondyly and ovoid vertebral bodies | n.a. | n.a. | n.a. | n.a. | |
Narrow obturator foramen | n.a. | n.a. | n.a. | n.a. | 2/11 [5] |
Coxa vara/valga |
−
|
−
|
−
|
−
| 3/11 [5] |
Scoliosis |
−
|
−
|
−
|
−
| |
Osteopenia | n.a. | n.a. | n.a. | n.a. | |
Delayed bone age | − | n.a. | n.a. | n.a. | |
Hypoplastic bones |
−
|
−
|
−
|
−
| |
Erlenmeyer flask-like long bones with metaphyseal flaring | n.a. | n.a. | n.a. | n.a. | |
Hyperextensibility of joints |
−
|
−
|
−
|
−
| |
Enlarged medullary canal | n.a. | n.a. | n.a. | n.a. | |
Pectus carinatum |
−
|
−
|
−
|
−
| 2/11 [5] |
Skin | |||||
Loose, soft and/or wrinkled skin | − | − | − | − | |
Deep palmar and plantar creases | − | − | − | − | |
Persistent fingertip pads | − | − | − | − | |
Keloid formation | − | − | − | − | One single case [16] |
Endocrine system | |||||
Enlarged pituitary sella turcica | − | − | − | − | One single case [5] |
Pituitary hyperplasia | − | − | − | − | One case with CS phenotype, not proven molecularly [11] |
GH deficiency | − | − | − | − | One single case associated to KCNJ8 gene mutation [8] |
Pituitary adenoma | + | − | + | − | No reported cases |
Other manifestations | |||||
Macrosomia at birth (adult height usually normal) | − | − | − | − | |
Polyhydramnios | n.a. | n.a. | n.a. | n.a. | |
Developmental and/or speech delay | − | − | − | − | |
Edema/ lymphedema | − | − | − | − | 5/11 [5] |
Pyloric stenosis | − | − | − | − | 1/11 [5] |
Feeding problems and poor intestinal motility | − | − | − | − | 8/14 [1] |
Hepatomegaly/ splenomegaly | − | − | − | − | 2/14 [1] |
Immune dysfunction and recurrent infections | − | − | − | − | |
Tracheo/broncho/laryngomalacia | n.a. | n.a. | n.a. | n.a. | 3/14 [1] |
Hoarse voice | − | − | − | − | 3/14 [1] |
Large hands | − | − | + | − | |
Umbilical hernia | − | − | − | − | |
Renal abnormalities | − | − | − | − | 1/11 [5] |
Genital abnormalities | − | − | + (small uterus) | − | |
Neurological manifestations | |||||
Migraines |
−
| − | − | − | 5/10 [12] |
Seizures |
−
| − | − | − | 2/10 [12] |
Hypotonia |
−
| − | − | − | 3/10 [12] |
Autism |
−
| − | − | − | 1/10 [12] |
Attention difficulties and behavioral problems |
−
| − | − | − | 4/10 [12] |
Cerebral atrophy |
−
| − | − | − | 2/10 [12] |
White matter changes | + | − | − | − | 3/10 [12] |
Tortuous cerebral vasculature |
−
| − | − | − | 5/10 [12] |
Tortuous retinal vessels | n.a. | n.a. | n.a. | n.a. | 2/10 [12] |