title: Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.
abstract: A boy with primary hypoparathyroidism and dysmorphic features suggesting a partial DiGeorge sequence is presented. Different possibilities of genetic counseling are considered in the absence of a definitive etiological diagnosis.
authors.affiliation: Hospital Infantil Miguel Servet, Zaragoza, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Baldellou
authors.forename: J
authors.initials: J
authors.lastname: Boné
authors.forename: M
authors.initials: M
authors.lastname: Tamparillas
authors.forename: A
authors.initials: A
authors.lastname: Rivas
authors.forename: M
authors.initials: M
authors.lastname: Pena
authors.forename: B
authors.initials: B
authors.lastname: Solsona
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003103:Coloboma / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010281:Parathyroid Hormone; D014057:Tomography, X-Ray Computed
chemical_list: D010281:Parathyroid Hormone