A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features

Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone....

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Bibliographic Details
Published in:Archives of disease in childhood 1991-02, Vol.66 (2), p.193-196
Main Authors: Sanjad, S A, Sakati, N A, Abu-Osba, Y K, Kaddoura, R, Milner, R D
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Biological and medical sciences
Cell-mediated immunity
Chromosome aberrations
Complications
Convulsions
Coronary artery disease
Diagnosis
Dietary supplements
Endocrinopathies
Facial Bones - abnormalities
Female
Fetal Growth Retardation - complications
Genetic aspects
Growth Disorders - etiology
Growth patterns
Growth rate
Heart diseases
Humans
Hypocalcemia
Hypocalcemia - etiology
Hypoparathyroidism
Hypoparathyroidism - blood
Hypoparathyroidism - congenital
Immunologic deficiency syndromes
Immunological deficiency syndromes
Infant
Infant, Newborn
Intellectual disabilities
Intellectual Disability - etiology
Male
Medical sciences
Mental retardation
Microencephaly
Parathyroid hormone
Pediatrics
Phosphates - blood
Skull - abnormalities
Syndrome
Tetany
Vitamin D
Vitamin D - therapeutic use
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Summary:Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatments with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.66.2.193