Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.
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.
Baldellou
A
A
Hospital Infantil Miguel Servet, Zaragoza, Spain.
Boné
J
J
Tamparillas
M
M
Rivas
A
A
Pena
M
M
Solsona
B
B
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
D010281:Parathyroid Hormone