Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.
Cohn
R D
RD
Abteilung für Allgemeine Kinderheilkunde mit Schwerpunkt Neuropädiatrie, Universitätsklinikum Essen, Germany.
Gillessen-Kaesbach
G
G
Dobyns
W B
WB
Kahn
T
T
Lenard
H G
HG
Voit
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome