New syndrome?: MCA/MR syndrome with multiple circumferential skin creases.
We describe a combination of multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs in a 4.5-year-old male. Craniofacial anomalies included: a high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, severe optic nerve hypoplasia, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals and posteriorly angulated ears. Head circumference was on the 10th centile and a CT scan showed dilated lateral ventricles. Intracranial pressure was not increased. Other abnormalities included: short stature, loose skin, hypotonia, pectus excavatum, inguinal and umbilical hernias, severe scoliosis, hypoplastic scrotum, long fingers and overlapping toes. Echocardiography showed tricuspid regurgitation. Chromosomes were apparently normal. Differentiation from "Michelin tire baby syndrome" and amniotic band sequence is discussed.
Elliott
A M
AM
F. Clarke Fraser Clinical Genetics Unit, Montreal Children's Hospital, Quebec, Canada.
Ludman
M
M
Teebi
A S
AS
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D001132:Arm / Q000002:abnormalities; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D007866:Leg / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D012868:Skin Abnormalities; D013577:Syndrome