Hypogonadotrophic hypogonadism in Roifman syndrome
- 1 June 2000
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 57 (6) , 435-438
- https://doi.org/10.1034/j.1399-0004.2000.570606.x
Abstract
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.Keywords
This publication has 5 references indexed in Scilit:
- Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaNature Genetics, 1999
- Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndromeClinical Genetics, 1999
- Selective IgG2 subclass deficiency - a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczemaClinical Dysmorphology, 1997
- Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entityClinical Genetics, 1992
- Heterogeneity of “Acquired” or Common Variable AgammaglobulinemiaNew England Journal of Medicine, 1974