title: Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus.
abstract: 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.
authors.affiliation: Dipartimento di Pediatria, I Facoltà di Medicina, Università di Napoli, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Stoppoloni
authors.forename: M
authors.initials: M
authors.lastname: Stabile
authors.forename: M M
authors.initials: MM
authors.lastname: Rinaldi
authors.forename: F
authors.initials: F
authors.lastname: Prisco
authors.forename: R G
authors.initials: RG
authors.lastname: Rabuano
authors.forename: E
authors.initials: E
authors.lastname: Pace
authors.forename: D
authors.initials: D
authors.lastname: Iafusco
authors.forename: F
authors.initials: F
authors.lastname: Stoppoloni
authors.forename: N
authors.initials: N
authors.lastname: Greco
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011629:Puberty, Precocious / Q000235:genetics; D013577:Syndrome
chemical_list: D006680:HLA Antigens