Table 1

Manifestations of the new MCA/MR syndrome in two female sibs

Patient 1Patient 2
VSD = ventricular septal defect, ASD = atrial septal defect.
IUGR++
Microcephaly (primary)++
Short stature/growth delay++
Craniofacial anomalies
    Low anterior hairline/widow's peak++
    Short philtrum++
    Prominent, widely spaced central incisors++
    Geographic tongue++
    Full lips+
    Micrognathia++
    Small ears++
Eye abnormalities++
    Hyperopia/astigmatism++
    Early childhood cataracts++
    Nasolacrimal duct stenosis+
    Strabismus++
VSD/ASD++
Inverted nipples+
Sacrococcygeal dimple/tethered cord++
Delayed bone age++ (Borderline)
Joint limitation/stiff joints++
Longitudinal grooves of nails+
Hypotonia++
Seizures++
Developmental delay++ (Milder)
Single umbilical artery+?
Placental calcification/degenerative changes++