Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.
Here we report a 10 year-old mentally retarded, deaf boy with a unique pattern of anomalies: progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes. He represents a variant example of "hyperostotic dwarfism" as delineated by Lenz and Majewski.
Chrzanowska
K H
KH
Department of Human Genetics, Memorial Hospital-Child Health Centre, Warsaw, Poland.
Fryns
J P
JP
Krajewska-Walasek
M
M
Van den Berghe
H
H
Wisniewski
L
L
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging; D002648:Child; D003638:Deafness / Q000151:congenital; D005147:Facial Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005530:Foot Deformities / Q000000981:diagnostic imaging; D006226:Hand Deformities / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D010641:Phenotype; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging / Q000473:pathology*