A rare syndrome characterized by postnatal short
stature with cardiac defect (atrial septal defect, pulmonic stenosis) and
craniofacial anomalies (facial features similar to Noonan syndrome). Other
features include relative macrocephaly, micrognathia, high-arched palate,
splenomegaly, hypotonia, hypertonia, hydrocephalus and raised intracranial
pressure, and brainstem atrophy (gait ataxia).
Cardio-Facio-Cutaneous Syndrome; CFC syndrome;
First described in 1986 by James F. Reynolds, American
geneticist, Giovanni Neri, Italian geneticist, and Jürgen Herrmann,
One hundred patients have been presented in the medical
Autosomal dominant, sporadic. Gene map locus
at 12q24.1; however, most cases reported are considered sporadic. Associated
with advance paternal age.
Clinical. The manifestations include congenital heart
defects, characteristic facial appearance, ectodermal abnormalities, and
This short-stature patient can present with
cardiac lesions (78% of cases, pulmonary valve/artery stenosis, congenital
cardiac anomaly, atrial septal defect), cephalic malformations (ptosis, short neck,
brittle hair, microcephaly, epicanthic folds helix, high forehead, bitemporal
constriction, thickened/depressed nasal bridge, micrognathia, sparse/absent
scalp hair, nystagmus, palate deformations), orthopedic deformations (hyperextensible fingers,
multiple palmar creases, multiple plantar creases), cutaneous lesions (severe atopic
dermatitis, ichthyosis, hyperkeratosis, hypohidrosis), and neurological disturbance (mild to
moderate mental retardation, seizures, hypotonia, hypertonia, hydrocephalus,
cortical atrophy, frontal lobe hypoplasia, brainstem atrophy).
Hepatosplenomegaly and ectopic testes can also occur.
Evaluate cardiac lesion (chest
radiograph, echocardiography, ECG, radionuclide imaging if necessary);
neurological function (clinical, EEG, somatosensory evoked potentials, CT).
Careful intraoperative positioning is
needed; in case of cardiopathy, perioperative cardiac monitoring should be
used and adapted anesthetic technique for the cardiac anomaly. Direct laryngoscopy and
tracheal intubation can be difficult because of facial deformation. Fiberoptic
intubation may be required. Avoid hyperthermia because of hypohidrosis. Perimedullar
anesthesia is not contraindicated but one must consider the risk because of the
neuroectodermal origin of most lesions.
Prophylactic antibiotics must be considered as
indicated in case of cardiopathy. Antiepileptic and cardiac drugs must be continued until
the day of the surgery. Consider interaction between antiepileptic treatment and
anesthetic drugs. Avoid muscle relaxants until airway is secured.
Noonan syndrome: Characterized by a
distinctive facial appearance similar to the CFC syndrome. The clinical
features include webbing of the neck, short stature, characteristic
abnormalities of the chest (pectus carinatum and/or pectus excavatum),
congenital heart defects (pulmonary stenosis), and/or other abnormalities of
which the most relevant are thrombocytopenia and coagulation factor
deficiencies. Abnormally large and/or present in unusual places bruising and bleeding are
common. It is inherited as an autosomal dominant transmission. There is disagreement in the
medical literature whether Noonan and CFC syndromes are distinct medical conditions.
Costello syndrome: Characterized
by short stature, distinctive facial characteristics (excessive loose skin
on the neck, palms of the hands, fingers, and soles of the feet), perioral
papillomata and mental retardation. Macrocephaly, depressed nasal bridge,
abnormally wide nostrils, low-set ears with large, thick lobes, palmoplantar
hyperkeratosis, and ...