Disturbances in mineral homeostasis are common in the neonatal period, especially in
premature infants and infants who are hospitalised in an intensive care unit. In many cases …

Hypoparathyroidism may occur as an isolated endocrine disorder or as a component of a
complex developmental, metabolic, or endocrinologic syndrome. Molecular genetics …

The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism
and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Abstract The last International Classification of Constitutional Disorders of Bone was
published in 1998. Since then rapid advances have been made in identifying the molecular …

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal
dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3 …

Parathyroid hormone is an essential regulator of extracellular calcium and phosphate. PTH
enhances calcium reabsorption while inhibiting phosphate reabsorption in the kidneys …

We studied 21 patients with Sanjad-Sakati syndrome [‎ SSS]‎ from 16 families. Parental
consanguinity was recorded in 2 families [‎ 12.5%]‎. All patients had severe intrauterine …

Kenny‐Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving
hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous …

Kenny–Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by
hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE …