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The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies. 1997

L I al-Gazali, and A Dawodu
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, AI Ain, UAE.

We report a child from a highly inbred Omani family with hypoparathyroidism, growth failure, developmental delay and a distinctive facial appearance. Thirty cases with this syndrome have been previously reported; 22 came from the Arab Gulf Countries and eight were Arabs living in Israel. These cases are reviewed.

UI MeSH Term Description Entries
D007011 Hypoparathyroidism A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone. Idiopathic Hypoparathyroidism,Hypoparathyroidism, Idiopathic
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002658 Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) Child Development Deviations,Child Development Disorders,Child Development Disorders, Specific,Developmental Delay Disorders,Disabilities, Developmental,Development Disorders, Child,Child Development Deviation,Child Development Disorder,Development Deviation, Child,Development Deviations, Child,Development Disorder, Child,Developmental Delay Disorder,Developmental Disability,Deviation, Child Development,Disability, Developmental
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005260 Female Females
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006130 Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings

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