Immense recidive two-sided inguinal hernias in a tetrasomy 12p disorder.
Abstract
: Immense recidive two-sided inguinal hernias in a tetrasomy 12p disorder.. 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
