Genetic disorder characterized by the association of
facial dysmorphism, failure to thrive, and accelerated osseous maturation
and linear growth. Accompanied by severe respiratory problems that are often
fatal during the first year of life, mental retardation, hypotonia, muscle
weakness, and psychomotor retardation. Craniofacial abnormalities include
prominent forehead and eyes, maldevelopment of the epiglottis, and
First described in 1971 by Richard E. Marshall, an
American pediatrician, and David W. Smith, an American pediatrician and
Rare; 25 cases described in the literature through 2000.
None; all cases reported were sporadic.
Based on clinical aspect and typical radiograph of
bones: markedly advanced osseous maturation, widening of the middle and
proximal phalanx, and multileveled platyspondylia (thin anterior part of
Orofacial dysmorphism: prominent forehead,
shallow orbits with prominent eyes, megalocornea, micrognathia caused by
hypoplastic mandibular ramus, upturned nose with anteverted nostrils, large
overflexed ears. Stridor caused by laryngeal anomalies or hypoplasia with
rudimentary epiglottis. Scoliosis. Atlantoaxial instability. Hypoplastic
thorax. Choanal atresia and/or functional obstruction of the upper airway
leading to sleep apnea. Mental retardation. Most patients die before age 2
years as a consequence of recurrent pulmonary infections (chronic
Check for presence or history of
stridor and/or laryngomalacia; probable sleep apnea syndrome: consider
insertion of a nasopharyngeal airway before sleep during a few days before
anesthesia; echocardiography to rule out associated cardiac malformation and
pulmonary hypertension caused by chronic upper airway obstruction. Check
patency of both nostrils. Cervical spine radiograph to check atlantoaxial
stability. Chest radiograph to check for infection and hypoplasia.
Difficult face-mask ventilation. Direct
laryngoscopy may be complicated by the presence of macroglossia, malformed
epiglottis, and laryngomalacia. Difficult tracheal intubation should be
anticipated. An induction technique maintaining spontaneous breathing is
indicated; upper airway collapse at the beginning of induction and at
awakening can be prevented by use of a nasopharyngeal airway; have laryngeal
mask airway and fiberoptic bronchoscope ready for use.
McCune-Albright Syndrome: Fibrous dysplasia of bones associated
with endocrine disorders, mainly precocious puberty.
Sotos Syndrome: Characterized by excessively rapid growth during
the first year of life, acromegalic craniocerebral features (macrocephaly,
prominent forehead), and a nonprogressive cerebral disorder with mental
retardation. Other features include high-arched palate and prognathism with
premature eruption of teeth, hypotonia, hyperthyroidism or hypothyroidism,
delayed motor and cognitive development.
Weaver Syndrome: Syndrome characterized by accelerated maturation
of bone and physical growth accompanied by developmental delay and specific
facial abnormalities (micrognathia, hypertelorism, down-slanting of
palpebral fissures), hypertonia, progressive spasticity, and a typical
low-pitched and hoarse cry in infants.
Antilla H, Laitio T, Aantaa R, et al: Difficult airway in a patient with
Marshall-Smith syndrome. Paediatr Anaesth 8:429, 1998.
Charon A, Gillerot Y, Van Maldergem L, et al: The Marshall-Smith
syndrome. Eur J Pediatr