SVIBOR - Project code: 3-02-383


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Project code: 3-02-383

Features of craniofacial complex in gonadal disgenesis

Main researcher: KAIĆ, ZVONIMIR (19714)

Type of research: applied
Duration from: 01/01/91. to 12/31/95.

Papers on project (total): 89
Papers on project quoted in Current Contents: 15
Institution name: Stomatološki fakultet, Zagreb (65)
Department/Institute: University of Zagreb School of Dentistry Department of Dental Anthropology
Address: Gundulićeva, 5
City: 10000 - Zagreb, Croatia
Fax: 385 (01)424-121
Phone: 385 (01)423-666,431-934/45

Summary: Clinical investigations of aberration of sex chromosomes X and Y effects to the craniofacial complex were carried out on the group of patients with gonadal dysgenesis divided into two groups: one with Turner's (TS) and the other with Klinefelter's (KS) syndrome. The scientific contribution is in the fact that the excess or the absence of sex chromosomes essentially and differently effect to the craniofacial growth and development. Mesiodistal dimensions in permanent dentition in patients with TS are significantly smaller (except upper canines). Crown size, especially for the first maxillary molars, mandibular incisors and second premolars are increased in size within the group of patients with extra X- chromosome. Frequency of taurodontism is found within the same group, as well as the additional ridges, grooves and pits of molars. Palatal features are significantly different between described groups. In TS group the palate is narrow, while in KS group thorus palatinus and sulcal feature of palate is frequent, and the palate width is larger. The main malocclusion in TS patients is crossbite, while in KS it is primary compression and mandibular prognathism. Cephalometric X-rays analysis of 24 angle and 18 linear head measures in KS patients shows that the lenght and the angle of the cranium base is significantly decreased causing the increasing of the mandible and decreasing of maxilla, what result with the characteristic anomaly. The periodontal status of adult Croatian 47,XXY males with Klinefelter syndrome revealed high frequency of alveolar bone resorption. The main scientific achievement of these investigations is better understanding of the effect of aneuploidy sex chromosomes to the numerous craniofacial structures.

Keywords: gonadal dysgenesis, sex, dental athropology, craniofacial complex, anomalies of jaws and teeth.

Research goals: The purpose of this research is to determine the prevalence ofthe shape anomalies in tooth crowns and roots in the sample of two basic groups with gonadal dysgenesis i. e. in the phenotypic females with marked Turner's syndrome (TS) and phenotypic males with marked Klinefelter's syndrome. The intention was further onto see pattern of the crown occlusal plane in molars and itsrelation to ridges, cusps, grooves and pits. The aim was also to measurethe permanent tooth dimensions in mesiodistal and vestibulooral directions, as well as to determine the quantitative and qualitative palatal features. Further on it was to see the prevalence of malocclusions in both groups and to estimate the shape and characteristics of cranium by cephalometric X-ray analysis. The intention was to establish the position ofpalpebral fissure, the presence of epicanthal fold, retractions of the eye lids, the condition of cornea, uvea, eye nerve and eye vascular vessels in the comparative ophtalmological investigations of TS group. Comparing pediatric, ophtalmologic, gynecologic, dentaland other (if necessary) diagnostic techniques it was to establishthe effects of sex chromosome aberration on specific craniofacial organs. In sum, the purpose of the investigation was to improvethe procedures of medical treating and rehabilitation of the craniofacial complex.


  1. Name of institution: Klinika za Pedijatriju, Odjel za endokrinologiju Medicinskog fakulteta u Zagrebu,
    Type of institution: Economical/Production
    City: 10000 - Zagreb, Croatia

  2. Name of institution: Odsjek za citologiju i medicinsku genetiku KB Merkur
    Type of institution: International organization
    City: 10000 - Zagreb, Croatia

  3. Name of institution: Zavod za endokrinologiju KB " Sestre milosrdnice "
    Type of institution: Economical/Production
    City: 10000 - Zagreb, Croatia

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Last update: 10/22/95