Martine K.F. Docx
Immense receive two-sided inguinal
hernias in a tetrasomy 12p disorder.
We present a term male (Birth weight: 3860
gr) (AD 39 6/7 weeks PML) of a G8P7AB 1 of
a 42-year-old Moroccan mother (
consanguinity). The prenatal ultrasound
demonstrated a unilateral ventriculomegaly and
polyhydramnios. After birth we found an
extremely hypotonic male newborn with
characteristic facial features include a high,
rounded forehead; a broad nasal bridge; a short
nose. and a wide mouth with a thin upper lip a
large tongue and a high arched palate. Feeding
difficulties were present: GERD,
swallow difficulties, constipation and micro-and
micro aspirations (fever and respiratory
infections). The genetic diagnosis confirmed a
Pallister-Killian syndrome The SNP array
showed a pathogenic multiplication of the entire
arm of chromosome 12p. This fits with the
diagnosis of a Pallister-Killian syndrome (
tetrasomy 12p) At the age of 2 months he
developed huge bilateral inguinal-scrotal.
hernias. An ultrasound showed the presence of
intestinal structures visible in the canals
inguinal is and more caudally in the tunica
