”Grigore T.

Popa” University of Medicine and Pharmacy,

Iași, Romania

Like Mother, Like Son:

Difficulties In Diagnosing
Holoprosencephaly
Author: Mădălina Andreea Beldie
Co-authors: Iulia Elena Mancaș, Mihaela Aurelia
Maftei
Scientific Coordinator: Lecturer Lavinia Caba,
MD
 MATERIALS
CONCLUSIONS
AND METHODS

BACKGROUND RESULTS
BACKGROUND
Holoprosencephaly
Alobar
type

Lobar
Semilobar
type
type

Microform
MIHV
MATERIALS AND
METHODS
 Imagine pacient

5 years old patient with

growth deficiency

Single maxillary incisor Endocrinology

Midline palatal ridge
Hypotelorism service
Medical
Genetics Further investigations
Department
Family history
 Karyotype – Normal, 46XY

Morphometry

• The biological and structural maturity of the

patient is normal.
Wrist
Radiography

• no abnormalities, excepting a slight mamilar

bodies hypoplasy and an increased dimension of
Brain and the chiasmatic cistern and suprasellar cistern
pituitary MRI
RESULTS
 Final diagnosis :
Holoprosencephaly - microform

E Heritable causes
T
I
O
L Environmental
G causes
Y
Normal karyotype –
What should we do
next?

Quantitative PCR

FISH

Chromosomal microarray
(CMA)
Another cause - a
pathogenic variant of
a gene
• SHH
• ZIC2
• SIX3
• TGIF1
• PTCH 1
• FOXH1
• NODAL
• CDON
• GLI2
Recommendations

• Endocrinological dispensarization
• Molecular test for SHH gene
• Genetic counseling for patient′s
parents
CONCLUSIONS
 Microform
holoprosencephaly

Cytogenic or
molecular
abnormalities

High
recurrence
risk
Thank you!