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

• 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
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/adc.66.2.193

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.