Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus
Stoppoloni, G.; Stabile, M.; Rinaldi, M.M.; Prisco, F.; Rabuano, R.G.; Pace, E.; Iafusco, D.; Stoppoloni, F.; Greco, N.
Annales de Genetique 35(4): 213-216
1992
ISSN/ISBN: 0003-3995 PMID: 1296517 Document Number: 397129
The authors report on five cases of Seckel syndrome type I primordial dwarfism, belonging to three unrelated sibships. Immunological and cytogenetic investigations with DEB test did not evidence immunodeficiency or chromosomal fragility. HLA phenotype studies revealed an identical haplotype in affected sibs: a possible linkage with HLA is therefore suggested. Cranial magnetic resonance was performed in three patients and did not evidence any anomaly. One affected female showed precocious puberty at 7 years of age.