Rare syndrome of accelerated growth and osseous
maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and
hypertonia with camptodactyly.
Weaver-Smith Syndrome; WSS.
First described in 1974 by David D. Weaver, American
physician and David Weyhe Smith, American pediatrician.
Isolated cases. Autosomal dominant inheritance
Caused by mutation in the nuclear receptor-binding
Su-var (NSD1 gene), which is located on 5q35.
Clinically by characteristic facies associated with tall
stature, large head, ears, and hands, and a low-pitched voice.
Increased prenatal weight and height. Development and speech
are delayed; there are mental retardation and behavioral problems. Others features involve
head and neck (flattened occiput, short broad neck, long philtrum, retrognathia,
anterior and cephalad position of the larynx, strabismus, hypertelorism, epicanthal folds,
down-slanting palpebral fissures, depressed nasal bridge), skeleton (short ribs,
disharmonic and advanced bone age, scoliosis, kyphosis, small iliac wings, coxa valga,
limited elbow and knee extension, flared metaphyses, camptodactyly, clinodactyly, broad
thumbs, feet malformations), genitourinary (GU) (inverted nipples, inguinal hernia,
hydrocele, cryptorchism), skin (loose skin, thin hair and nails), and central nervous
system (CNS) (hypertonia, spasticity, seizures, absent septum pellucidum, lateral
ventricle dilatation). Congenital cardiac defects may occur.
Evaluate carefully the oropharyngeal anatomy
for eventual direct laryngoscopy and tracheal intubation (clinical,
radiographs), neurological function (clinical, CT/MRI, EEG), renal function
(clinical, echography, lab) and cardiac function (clinical, ECG,
Tracheal intubation can be difficult
because of retrognathia, short broad neck and an anterior and cephalad position of the larynx. It may require adapted
anesthetic management. Fiberoptic intubation can be useful. The accessibility to a laryngeal mask airway in case of failed tracheal intubation may also be very useful. Careful
intraoperative positioning is needed because of skeletal deformities.
Regional anesthesia is not contraindicated but can be difficult to realize
because of deformations and spasticity.
Consider interaction between
antiepileptic treatment and anesthetic drugs. Avoid muscle relaxants until
airway is secured and lung ventilation is confirmed.
Marshall-Smith Syndrome: Considered
similar to the Weaver-Smith syndrome because of the early and rapidly
progressive growth and bone maturation. Individuals affected with
Marshall-Smith syndrome are underweight in relation to their height
and may present with respiratory problems.
McCune-Albright Syndrome: Involves the
endocrine and musculo-skeletal systems in children. It is characterized by
precocious sexual development, osseous pain caused by alteration of bone
integrity, leading to skeleton deformity and disability. Most individuals
present with changes in skin pigmentation. Children affected by this
disorder present as excessively tall during childhood but smaller during
Gigantism: Occurs before puberty and is characterized by
excessive growth during childhood with relatively normal body proportions
and sexual development. Height sometimes reaches 7 or 8 feet.
Sotos Syndrome: A rare hereditary
disorder characterized by excessive growth (over the 90th percentile) during
the first 4 to 5 years of life. It may affect ...