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Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

D.E. Popescu
D.E. Popescu
, 
D. Marian
D. Marian
, 
M. Zeleniuc
M. Zeleniuc
, 
Ch. Samoila
Ch. Samoila
 et 
V. Belengeanu
V. Belengeanu
   | 31 juil. 2023
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Article Category: Case Report
Publié en ligne: 31 juil. 2023
Pages: 75 - 82
DOI: https://doi.org/10.2478/bjmg-2023-0006
Mots clés
© 2023 D.E. Popescu et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Distinctive clinical facial features of the proband: age 11 months (a, b), age 4 years (c, d) age 16 years (e, f).
Distinctive clinical facial features of the proband: age 11 months (a, b), age 4 years (c, d) age 16 years (e, f).

Figure 2.

Clinodactyly of the hands (a) and anomaly of the feet (b)
Clinodactyly of the hands (a) and anomaly of the feet (b)

Figure 3.

High-arched palate (a) and abnormal dermatoglyphics (b)
High-arched palate (a) and abnormal dermatoglyphics (b)

Figure 4.

X-ray examination of hands at 11 months (a) and 16 years (b)
X-ray examination of hands at 11 months (a) and 16 years (b)

Figure 5.

Transposition between the left lateral incisor and canine (a) open bite (b) enamel hypoplasia and dental caries (c) at 16 years
Transposition between the left lateral incisor and canine (a) open bite (b) enamel hypoplasia and dental caries (c) at 16 years

Figure 6.

Orthopantomography at 16 years
Orthopantomography at 16 years

Figure 7.

Profile Teleradiography (a); Ricketts lateral analysis (b) at 16 years
Profile Teleradiography (a); Ricketts lateral analysis (b) at 16 years

Figure 8.

FISH analysis. FISH finding in chromosome 4 with green signal corresponding to centromere region and red signal corresponding to 4p.16.3 region. The green arrow showed the deletion of chromosome 4 and the red arrow indicated normal chromosome: a) the FISH sample shows chromosomes 4 without deletion; b) FISH test shows 4p monoallelic deletion
FISH analysis. FISH finding in chromosome 4 with green signal corresponding to centromere region and red signal corresponding to 4p.16.3 region. The green arrow showed the deletion of chromosome 4 and the red arrow indicated normal chromosome: a) the FISH sample shows chromosomes 4 without deletion; b) FISH test shows 4p monoallelic deletion

Cephalometric analysis based on the profile teleradiography

MEASUREMENT NORMAL VALUE VALUE DIFFERENCE BIAS
Cranial Base Evaluation
Cranial deflection O 27.0 26.1 −0.9
Ant. Cranial Length mm 64.0 58.2 −5.8
Post. Cranial Length mm 43.5 32.7 −10.8
Face Typology
Total Facial Height O 60.0 46.5 −13.5 •••
Facial Taper O 68.0 72.3 4.3 •
Mandible Growth Direction
Facial axis O 90.0 94.8 4.8 •
Lower Facial Height O 46.0 41.7 −4.3 •
Mandible Shape
Mandibular arc O 27.2 48.2 21.0 •••
FMA O 21.5 20.2 −1.3
Corpus Axis mm 77.4 59.9 −17.5 •••
Posterior Facial Height mm 64.0 60.8 −3.2 •
Skeletal Relations
Convexity mm 0.0 0.6 0.6 •
A-N-Ba O 63.0 62.1 −0.9
Maxillary Depth O 90.0 88.3 −1.7
Facial Depth O 91.7 87.6 −4.1 •
Dental Condition
Upper 6 to PTV mm 21.0 19.6 −1.4
Lower 6 to PTV mm 24.0 14.5 −9.5 •••
Interincisal angle O 126.0 148.6 22.6 ••
Upper 1 to Lips Embrasure mm N/A 8.3 N/A ••
Lower 1 Extrusion mm 1.2 −1.6 −2.8 ••
Lower 1 to A-Po mm 1.0 −2.7 −3.7 •
Lower 1 to A-Po angle O 22.0 20.1 −1.9 •
Esthetic
Li’/E-line mm −3.8 3.8 7.6 •

Retrognathia in Cephalometry Heb.Uni. Analysis

Descriptor Meas Type Mean Sd Patient Graph Comment
Maxilla To Cranium
SNA Deg 82.0 2.0 83.65 − ( * )+
NA TO F.H. Deg 90.0 6.0 93.4 − ( * )+
Mandible To Cranium
FACIAL ANGLE FH-N-Pog Deg 87.8 3.6 93.56 − ( * )+ Mandible forward to Base

j.bjmg-2023-0006.tab.003

At 11 months: G=5700g, T=65cm PC=42cm
SD: −3.54 for waist
SD: −4.4 for weight
SD: −3.25 for the cranial perimeter (PC)
At 4 years: G=12.3kg, T=91cm PC=47cm
SD: −2.68 for waist
SD: −2.46 for weight
SD: −2.27 for PC
At 16 years: G=47kg, T=148cm PC=51
SD: −2.94 for waist
SD: −1.54 for weight
SD: −2.75 for PC
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