The syndrome of hypoparathyroidism associated with growth retardation,
developmental delay, and dysmorphism (HRD) is autosomal recessive, congenital
disorder with severe, often fatal consequences. It is presumed to be caused by
homozygous inheritance of a single recessive mutation from a common ancestor.
Since the syndrome is very rare, with all parents of affected individuals being
consanguineous. (2) All affected persons had homozygous deletion of 12 bp (155–
166del) in exon 3at 1q42-43 of the TBCE gene. All of the parents were heterozygous
carriers of this mutation. (3)
Aim: We aimed to clarify the clinical spectrum of HDR.we also wanted to focus on
uncommon, serious complications of HDR.to increase awareness of sanjad syndrome
among pediatricians.
Method:We reviewed the Hospital records for the Period 2000–2016,we studied
fifteen patients sequently (eight boys, seven girls) from 10 Jordanian families.
Result: All our patients were presented with severe hypocalcaemic tetany or
convulsions to our pediatric endocrinology clinic. All patients shared several
dismorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip,
micrognathia, and depressed nasal bridge, and Mental retardation of varying degree
was found in all patients (1).
Conclusion: Most of them were symptomatic in the newborn period. Their
hypocalcaemia was associated with hyperphosphataemia and very low concentrations
of immunoreactive parathyroid hormone. Two of the babies suffered from simple
congenital cardiac disease (small ASD), while one patient had pulmonary
hypertension.All had severe intrauterine and postnatal growth retardation. Two
patients have died. The remaining thirteen patients are on treatments with 1-α vitamin
D3/calciumsupplements with no change in their growth pattern. (1)