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Very rare inherited disorder characterized by defects
of the scalp associated with multiple scarred and hairless areas that
usually have dilated blood vessel directly under the skin. Scalp defects are
present at birth. The extremities are either short (hypoplastic fingers and
toes) or characterized by absent hands and lower legs. Congenital heart
defect must be ruled out.
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Congenital Scalp Defects with Distal Limb Reduction
Anomalies; Absence Defect of Limbs, Scalp, and Skull.
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Described in 1945 by Forrest H. Adams and C.P. Oliver,
both American physicians.
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Rare congenital abnormality. Approximately 100 cases
have been described. Both sexes are equally affected.
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In most families, the disorder clearly follows
an autosomal dominant pattern of inheritance, but in some families the
penetrance is reduced. No genetic background information or molecular data
concerning the Adams-Oliver syndrome are available.
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The pathophysiologic mechanism remains unknown,
but a vascular pathogenesis with interruption of early embryonic blood
supply to the subclavian arteries has been discussed.
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The diagnosis is made clinically with findings of a
scalp defect combined with distal limb anomalies.
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For some researchers, this syndrome represents
one of many forms of Aplasia Cutis Congenita. The congenital
midline scalp defect often is solitary and associated with an underlying
skull defect and dilated scalp veins converging to the skin defect.
Typically, these lesions appear as small ulcerations that may heal
spontaneously. Larger lesion may require surgery with skin grafting and
often are associated with an underlying bone defect. In a small number of
patients, these defects have resulted in death secondary to infection (fatal
meningitis) or hemorrhage from the sagittal sinus. However, the clinical
expression of this syndrome is highly variable. The defect of the cranium
usually is not associated with nervous system abnormalities. Intellectual
development seems normal. However, hydrocephalus, microcephaly, seizure
disorder, and mental retardation have been reported in a few patients. Limb
reduction anomalies (found in 80% of patients) are most commonly
characterized by hypoplastic or absent distal phalanges and in some cases
absence of the lower leg below the midcalf level. On the upper limb, the
metacarpals or the fingers may be completely absent or the terminal
phalanges of the fingers are hypoplastic. Other anomalies may
include congenital heart defects (present in up to 13% of patients, e.g.,
tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle,
pulmonary vein stenosis, atrial septal defect), cerebral arteriovenous
malformations, encephalocele, microphthalmia, cleft lip/palate, cutis
marmorata telangiectatica congenita, Epidermolysis Bullosa, thin and
hyperpigmented skin, woolly hair, and supernumerary nipples. Bronchial and
renal anomalies and portal hypertension have been described in a small
number of patients.
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In neonates, look carefully for
associated abnormalities. Cardiac malformations should be excluded by
echocardiography. The anesthesiologist must be aware of the possible
association with Epidermolysis Bullosa. Look for possible complications
of large or multiple scalp defects, such as infection (meningitis) or
hemorrhage. Obtain complete blood count, electrolytes, ...