Izvorni znanstveni članak
Craniofacial Anthropometric Pattern Profile in Hypohidrotic Ectodermal Dysplasia – Application in Detection of Gene Carriers
Ilija Škrinjarić
Kristina Škrinjarić
Dubravka Negovetić Vranić
Martina Majstorović
Domagoj Glavina
Sažetak
Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations
of severe hypodontia or anodontia, hypotrichosis, hypohidrosis, and specific facial appearance.
Affected males show complete expression of clinical features of this condition.
Their mothers, who are gene carriers, express only some signs, which are usually very
mild. Currently available clinical methods are not sufficient for routine identification of
the HED heterozygous gene carriers. The purpose of this study was to identify and describe
the facial characteristics of HED patients and their mothers and to evaluate the
usefulness of craniofacial pattern profile analysis (CFPP) in the diagnosis of this syndrome
and the detection of gene carriers. In this study six affected males and their mothers
were evaluated. Z-scores for each variable were calculated and compared with
age- and sex-matched controls. Anthropometric analysis showed a specific dysmorphic
pattern in CST patients that includes decreased skull base width (t-t: –1.67 Z); decreased
forehead width (ft-ft: –1.8 Z), decreased midface depth (sn-t: – 2.02 Z), markedly decreased
total facial height (n-gn: – 3.4 Z), and markedly decreased maxillary arc (t-sn-t:
–2.5 Z). Gene carriers showed a similar tendency in their pattern profiles. They showed
the same tendency towards lower Z-values for forehead width, facial height, and mouth
width. The values for these measurements were between those of the affected and healthy
controls. The most pronounced findings were increased head width (eu-eu: +2.83 Z), increased
lower face width (go-go: +2.06 Z), and reduction of total facial height (n-gn:
–0.95 Z). They also displayed increased nose width (al-al: +2.41 Z) and increased biocular
distance (ex-ex: +2.01 Z). When used in conjunction with other methods the anthropometrics
pattern profile analysis can considerably enhance detection of gene carriers
for HED and increase objective assessment of the craniofacial region in HED patients.
Ključne riječi
hypohidrotic ectodermal dysplasia; anthropometry; craniofacial pattern profile; gene carrier detection
Hrčak ID:
28197
URI
Datum izdavanja:
15.12.2003.
Posjeta: 986 *