Hypogonadotrophic hypogonadism in Roifman syndrome.
The combination of spondyloepiphyseal dysplasia, humoral immune deficiency, growth retardation, intellectual deficit and characteristic facial dysmorphism has recently been delineated as a discrete disorder thus far only reported in males. This report describes a fifth individual with co-existent hypogonadotrophic hypogonadism, thereby expanding the phenotype and possibly offering insight into the genetic aetiology of this condition.
Robertson
S P
SP
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia. steve.robertson@imm.ox.ac.uk
Rodda
C
C
Bankier
A
A
D000328:Adult; D019066:Facies; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007107:Immune System / Q000002:abnormalities; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics; D010388:Pelvis / Q000000981:diagnostic imaging; D011859:Radiography; D012164:Retinal Diseases / Q000235:genetics; D013131:Spine / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome