Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets.
We report female triplets with the clinical and biochemical manifestations of hypoparatyroidism-retardation-dysmorphism (HRD) syndrome also known as Sanjad-Sakati syndrome. They were born at 35 weeks gestation after assisted pregnancy (in vitro fertilization). The parents are first degree cousins from Saudi Arabia.
Al Tawil
Khalil
K
Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Saudi Arabia. tawilkio@yahoo.com
Shataiwi
Adnan
A
Mutair
Angham
A
Eyaid
Wafa
W
Saif
Saif Al
SA
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002112:Calcifediol / Q000008:administration & dosage / Q000627:therapeutic use; D002118:Calcium / Q000008:administration & dosage / Q000097:blood / Q000627:therapeutic use; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000473:pathology*; D007223:Infant; D010758:Phosphorus / Q000097:blood; D011596:Psychomotor Disorders / Q000473:pathology*; D012529:Saudi Arabia; D013577:Syndrome; D014310:Triplets
D010758:Phosphorus; D002112:Calcifediol; D002118:Calcium