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Hereditary skeletal dysplasia resulting in proportionate dwarfism characterized by thickening of the inner corticalis and stenosis of the medullary cavities of the tubular bones.

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Dwarfism-Congenital Medullary Stenosis Syndrome; Dwarfism-Tubular Bone Stenosis; Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRD); Kenny Syndrome; Kenny-Linarelli Syndrome; Tubular Stenosis-Hypocalcemia-Convulsions-Dwarfism Syndrome; Tubular Stenosis-Periodic Hypocalcemia Syndrome; Tubular Stenosis with Hypocalcemia.

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Approximately 55 cases have been described. Both sexes are affected with equal severity.

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A genetic disorder caused by truncation mutations of the TBCE (tubulin-specific chaperone E) gene. Autosomal recessive; reported almost exclusively in Middle Eastern populations. Autosomal dominant and X-linked transmission is also possible. Sporadic cases may be a result of new mutations. Genetic defect located on chromosome 1 (locus 1q42-q43).

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The most striking biochemical finding is hypocalcemia, which is related to hypoparathyroidism in 46% of cases. The hypocalcemia is frequently associated with seizures or episodes of tetany. Thickening of long bone cortices and the calvaria of the skull are common findings. The cortical thickening is associated with medullary stenosis.

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Based on a constellation of clinical findings in addition to persistent hypocalcemia and low-to-normal parathyroid hormone assays. Growth hormone and thyroid hormone levels usually are normal. Anemia is present in 30% of patients.

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Proportionate growth retardation (prenatal and postnatal) associated with delayed bone age is the most common feature. Medullary stenosis of the long bones is common, and delayed closure of the anterior fontanelle occurs in 90% (fontanelle may remain open into teenage years). Sixty percent of patients have convulsions and tetany. Fatal outcome of these convulsions has been reported. Ophthalmic abnormalities are common: most frequently microphthalmia and hyperopia, as well as strabismus, congenital glaucoma, and pseudopapilledema. Intelligence usually is normal, but psychomotor delay may be present.

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Obtain a complete blood count and check the electrolytes. Evaluation of the eyes, particularly for presence of glaucoma.

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Calcium levels should be closely monitored during long procedures. Hypocalcemia should be considered in the differential diagnosis of postoperative seizures or tetany. In the presence of glaucoma, avoid eye compression and other measures that may potentially increase intraocular pressure.

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Succinylcholine should be avoided in the presence of glaucoma.

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DiGeorge Syndrome: An inherited disorder with recurrent infections, defective thymus functions, heart defects, and characteristic facial features.

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Velocardiofacial Syndrome: A hereditary disease characterized by heart defects, cleft palate or velopharyngeal insufficiency, typical facies, learning disabilities, and multiple other physical anomalies.

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Camurati-Engelmann Syndrome: A musculoskeletal syndrome leading to enhanced bone formation, hyperostosis and sclerosis of the diaphyses of the long bones.

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Craniodiaphyseal Dysplasia: A bone disorder characterized by marked hyperostosis of the craniofacial bones and diaphyseal expansion of the tubular bones resulting in significant clinical complications.

Abdel-Al Y, Auger T, El-Gharbawy F: Kenny-Caffey syndrome: Case report and literature review. Clin Pediatr 28;4:175, 1989.
Parvari R, Hershkovitz E, Grossman ...

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