An 18-month-old child, the only gesta of healthy and non-consanguineous parents.
At 6 months of pregnancy, ultrasound detected hydrocephalia.
Caesarean section at term, weight 2 170 g, height 44 cm and Apgar 4/8.
She required oxygen by a helmet and hospitalization due to intrauterine growth retardation and late neonatal sepsis. During hospitalization a brain magnetic resonance was performed showing ventriculomegaly and left colpocephalia. Persistent ductus arteriosus was also identified.
Psychomotor development: fixed gaze and social smile 3 months, resentment, pinza gruess and posturalization 9 months.
A karyotype with G bands was performed which was reported as normal 46,XY and was referred to continue attending our institute.
Physical location: weight and size below CP 3, macrocephalia relative (PC 10) broad nasal mucosa, face to face with straightforward faces, straightforward faces, short fissures with prominent faces and implantable bridges.
Thorax with bar systolic murmur.
Hypotonic extremities with brachydactyly and clinodactyly of the fifth finger.
FISH was performed with described probe showing the alteration: 46,XY.ish del(1)(p36)(tel-Vision1p-, p58-).
The studies of both parents revealed no abnormalities.
He did not require surgical treatment for hydrocephalia.
She was diagnosed with symptomatic epilepsy in control with levetiracetam and heart disease managed with diuretics and inotropic agents.
It has persisted with delay despite physical therapy and stimulation, it manages to transfer objects, partial sitting and a bisyllabic.
