பிரிட்டிஷ் ஜர்னல் ஆஃப் ரிசர்ச் திறந்த அணுகல்

சுருக்கம்

In a tetrasomy 12p condition, there are massive recidive two-sided inguinal hernias

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