Huge recidive bilateral inguinal hernias in a tetrasomy 12p syndrome

ACase Report: We present an aterm 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 an 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; widely spaced eyes; low-set ears; rounded
cheeks; and a wide mouth with a thin upper lip a large
tongue and a high arched palate.Feeding difficulties were
present: GERD, swallow fifficulties, constipation and
micro-and microaspirations ( 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 inguina-
scrotal hernias.An ultrasound showed the presence of
intestinal structures visible in the canalis inguinalis and
more caudally in the tunica vaginalis, reaching as far as
intrascrotal on the left and as far as the entrance of the
scrotum on the right side. At the age of 4 months an
hernioraphy bilateral was done. Afterwards there was a
recidive at the age of 11 months with a laparoscopic reconstruction.