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.