Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?
We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.
Cesarino
E J
EJ
Instituto Dante Pazzanese de Cardiologia, São Paulo, Brazil.
Pinheiro
M
M
Freire-Maia
N
N
Meira-Silva
M C
MC
D000015:Abnormalities, Multiple / Q000175:diagnosis; D003937:Diagnosis, Differential; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D006983:Hypertrichosis / Q000150:complications*; D007231:Infant, Newborn; D008265:Macrostomia / Q000150:complications*; D008297:Male; D011596:Psychomotor Disorders / Q000150:complications*; D013577:Syndrome