CENTRAL DIABETES-INSIPIDUS IN A NEWBORN WITH DELETION OF CHROMOSOME 7Q

We report an infant with midline craniofacial defects and holoprosence phaly due to chromosome 46, XY, del (7) (pter-->q34) who presented at 1 week of age with central diabetes insipidus, The importance of hypot halamic-pituitary endocrine investigation in patients with this syndro me, and more generally, in patients with midline craniofacial malforma tion or holoprosencephaly is emphasized. As infants with chromosome 7q deletion bear close phenotypic resemblance to infants of Trisomy 13, chromosomal confirmation and karyotype banding is mandatory to establi sh an accurate diagnosis and for genetic counselling of their parents.