Quantitative and qualitative defects in development of
the prosencephalic neural crest. Fish-like facial (mouth) appearance. Other
craniofacial anomalies include triangularly shaped face, small nose, partial
absence of tissue (coloboma) from the midportion of nostril walls. Heart,
kidney, and liver anomalies are present, especially in neonates. Other
features include skin and genitalia anomalies, absent eyelids, alopecia
totalis, camptodactyly. Infants and children with AMS show delayed language
development and mental retardation.
AMS is an extremely rare congenital abnormality.
Approximately six cases have been reported since McCarthy and West in 1977.
Cause of AMS is unknown. Some of the cases
suggest AMS is inherited as an autosomal recessive genetic trait. Autosomal
dominant inheritance is possible because of a postulated relationship to the
disorder in monozygotic twins from consanguineous parents. It seems most
likely that AMS is, in fact, a new mutation autosomal disorder. The gene
implicated may be located on chromosome 18, where a deletion has been found.
Diagnosis is made based on the
clinical aspect of the newborn. The disorder is characterized by absence or
hypoplasia of the lower eyelids (ablepharon/microblepharon), eyebrows, and
eyelashes. Other eye features include corneal opacifications, nystagmus, and
cryptophthalmos. An association with absent zygomatic arches has been
described. Fusion defects of the mouth result in macrostomia with a
fish-like mouth. The nose often is hypoplastic. The nipples may be absent or
rudimentary and the genitalia ambiguous. The skin shows ichthyotic changes
and redundant skin folds. Mental retardation with delayed development of
expressive language is common. The primary goal of surgical treatment is
preserving the cornea by early postnatal treatment, early lid
reconstruction, and use of lubricants.
Neonates should be carefully
evaluated by echocardiography for associated heart, brain, or kidney
abnormalities. In case of absent zygomatic arches, difficult airway
management must be anticipated, especially with regard to tracheal
intubation. Also evaluate for possible airway obstruction.
No anesthetic data about AMS and its anesthetic and pharmacological drug
implications have been reported. The anesthesiologist must be aware of any
associated abnormalities that will guide the choice of anesthetic technique
and drugs. If a difficult tracheal intubation is anticipated, preservation
of spontaneous ventilation is recommended until the airway is secured.
Barber-Say Syndrome: Hypertrichosis, atrophic skin, ectropion,
macrostomia syndrome. Hypertelorism has been described. X-linked or
autosomal dominant inheritance. Occasionally, cleft palate, primary
hypospadias, shawl scrotum, and mild hearing loss are seen.
Ablepharon-Ichthyosis: Similar to AMS, with excessive skin
wrinkling, hyperkeratosis, periorbital tumors/cysts, and scalp defects.
Barber N, Say B, Bell RF, et al: Macrostomia, ectropion, atrophic skin,
hypertrichosis and growth retardation. Syndrome Ident 8:6, 1982.
McCarthy GT, West CM: Ablepharon-macrostomia syndrome. Dev Med Child Neurol
Pellegrino JE, Schnur RE, Boghosian-Sell L, et al: Ablepharon-macrostomia
syndrome with associated cutis laxa: Possible localization to 18q. Hum Genet